esv2670312

Organism: Homo sapiens

Study:estd199 (1000 Genomes Consortium Phase 1)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh37 (hg19)

Variant Calls:85
Validation:Yes
Clinical Assertions: No
Region Size:500,095

Publication(s):1000 Genomes Project Consortium et al. 2012

Links to Other Resources

Overlapping Genes

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 1703 SVs from 87 studies. See in: genome view

Remapped(Score: Perfect):128,499,519-128,999,613

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv2670312	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000007.14	Chr7	128,499,519	128,999,613
esv2670312	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000007.13	Chr7	128,139,573	128,639,667

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv5417337	deletion	SAMN00009250	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,377
essv5448280	deletion	SAMN00006558	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,756
essv5456654	deletion	SAMN00001255	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	876
essv5459583	deletion	SAMN00797419	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,200
essv5459587	deletion	SAMN00009136	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,371
essv5462249	deletion	SAMN00007845	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	836
essv5508369	deletion	SAMN00006372	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,554
essv5516022	deletion	SAMN00006556	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,746
essv5519842	deletion	SAMN00006463	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,668
essv5534742	deletion	SAMN00006562	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,667
essv5535984	deletion	SAMN00000514	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,014
essv5549674	deletion	SAMN00007866	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	847
essv5549966	deletion	SAMN00006550	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,705
essv5555942	deletion	SAMN00801418	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	808
essv5557137	deletion	SAMN00000455	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,599
essv5572843	deletion	SAMN00801049	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,329
essv5594750	deletion	SAMN00006445	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,718
essv5624786	deletion	SAMN00009095	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,695
essv5626300	deletion	SAMN00000459	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,590
essv5633349	deletion	SAMN00009106	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,631
essv5655540	deletion	SAMN00014314	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,733
essv5661209	deletion	SAMN00007779	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	853
essv5722412	deletion	SAMN00000510	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,141
essv5726014	deletion	SAMN00000432	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,561
essv5731896	deletion	SAMN00000568	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,629
essv5734652	deletion	SAMN00001668	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,411
essv5763969	deletion	SAMN00004670	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,005
essv5777843	deletion	SAMN00000571	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,271
essv5802274	deletion	SAMN00009248	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,270
essv5841029	deletion	SAMN00004651	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,353
essv5846160	deletion	SAMN00000439	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,142
essv5863495	deletion	SAMN00000517	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,139
essv5889428	deletion	SAMN00006564	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,702
essv5897032	deletion	SAMN00801103	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,198
essv5907722	deletion	SAMN00006549	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,666
essv5912425	deletion	SAMN00001192	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,334
essv5916805	deletion	SAMN00006344	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,026
essv5924085	deletion	SAMN00009103	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,716
essv5936644	deletion	SAMN00000441	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,152
essv5946759	deletion	SAMN00014341	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,190
essv5962547	deletion	SAMN00007773	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	848
essv6009562	deletion	SAMN00006820	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,352
essv6017238	deletion	SAMN00014312	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,381
essv6027006	deletion	SAMN00007791	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,181
essv6027977	deletion	SAMN00007792	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,081
essv6043503	deletion	SAMN00800266	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,221
essv6049251	deletion	SAMN00004696	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,778
essv6071038	deletion	SAMN00000530	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,423
essv6079311	deletion	SAMN00007767	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	862
essv6084269	deletion	SAMN00000475	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,658
essv6090860	deletion	SAMN00007798	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,207
essv6128909	deletion	SAMN00001632	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,311
essv6131720	deletion	SAMN00006442	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,722
essv6142563	deletion	SAMN00009205	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	813
essv6171066	deletion	SAMN00001656	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,176
essv6191061	deletion	SAMN00007722	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,201
essv6198589	deletion	SAMN00001641	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,148
essv6199617	deletion	SAMN00001191	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,461
essv6235239	deletion	SAMN00006543	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,658
essv6254141	deletion	SAMN00001639	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,246
essv6294007	deletion	SAMN00001586	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,356
essv6326650	deletion	SAMN00000926	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,337
essv6337003	deletion	SAMN00006493	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,115
essv6340453	deletion	SAMN00001640	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,112
essv6346771	deletion	SAMN00007764	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	883
essv6363165	deletion	SAMN00006559	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,684
essv6371764	deletion	SAMN00001602	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,302
essv6386291	deletion	SAMN00006546	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,658
essv6390550	deletion	SAMN00001265	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	933
essv6394423	deletion	SAMN00800947	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,252
essv6406786	deletion	SAMN00001121	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,383
essv6414768	deletion	SAMN00009123	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,809
essv6420733	deletion	SAMN00014317	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,665
essv6441505	deletion	SAMN00014326	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,595
essv6447426	deletion	SAMN00001662	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,153
essv6488029	deletion	SAMN00000460	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,651
essv6497785	deletion	SAMN00007723	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,255
essv6504695	deletion	SAMN00009154	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,617
essv6507483	deletion	SAMN00000923	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,015
essv6510092	deletion	SAMN00007753	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,117
essv6518714	deletion	SAMN00000528	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,151
essv6531247	deletion	SAMN00009117	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,813
essv6593141	deletion	SAMN00001635	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,158
essv6596153	deletion	SAMN00001603	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,445
essv6598231	deletion	SAMN00006552	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,667

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv5417337	Remapped	Perfect	NC_000007.14:g.128 499519_128999613de lT	GRCh38.p12	First Pass	NC_000007.14	Chr7	128,499,519	128,999,613
essv5448280	Remapped	Perfect	NC_000007.14:g.128 499519_128999613de lT	GRCh38.p12	First Pass	NC_000007.14	Chr7	128,499,519	128,999,613
essv5456654	Remapped	Perfect	NC_000007.14:g.128 499519_128999613de lT	GRCh38.p12	First Pass	NC_000007.14	Chr7	128,499,519	128,999,613
essv5459583	Remapped	Perfect	NC_000007.14:g.128 499519_128999613de lT	GRCh38.p12	First Pass	NC_000007.14	Chr7	128,499,519	128,999,613
essv5459587	Remapped	Perfect	NC_000007.14:g.128 499519_128999613de lT	GRCh38.p12	First Pass	NC_000007.14	Chr7	128,499,519	128,999,613
essv5462249	Remapped	Perfect	NC_000007.14:g.128 499519_128999613de lT	GRCh38.p12	First Pass	NC_000007.14	Chr7	128,499,519	128,999,613
essv5508369	Remapped	Perfect	NC_000007.14:g.128 499519_128999613de lT	GRCh38.p12	First Pass	NC_000007.14	Chr7	128,499,519	128,999,613
essv5516022	Remapped	Perfect	NC_000007.14:g.128 499519_128999613de lT	GRCh38.p12	First Pass	NC_000007.14	Chr7	128,499,519	128,999,613
essv5519842	Remapped	Perfect	NC_000007.14:g.128 499519_128999613de lT	GRCh38.p12	First Pass	NC_000007.14	Chr7	128,499,519	128,999,613
essv5534742	Remapped	Perfect	NC_000007.14:g.128 499519_128999613de lT	GRCh38.p12	First Pass	NC_000007.14	Chr7	128,499,519	128,999,613
essv5535984	Remapped	Perfect	NC_000007.14:g.128 499519_128999613de lT	GRCh38.p12	First Pass	NC_000007.14	Chr7	128,499,519	128,999,613
essv5549674	Remapped	Perfect	NC_000007.14:g.128 499519_128999613de lT	GRCh38.p12	First Pass	NC_000007.14	Chr7	128,499,519	128,999,613
essv5549966	Remapped	Perfect	NC_000007.14:g.128 499519_128999613de lT	GRCh38.p12	First Pass	NC_000007.14	Chr7	128,499,519	128,999,613
essv5555942	Remapped	Perfect	NC_000007.14:g.128 499519_128999613de lT	GRCh38.p12	First Pass	NC_000007.14	Chr7	128,499,519	128,999,613
essv5557137	Remapped	Perfect	NC_000007.14:g.128 499519_128999613de lT	GRCh38.p12	First Pass	NC_000007.14	Chr7	128,499,519	128,999,613
essv5572843	Remapped	Perfect	NC_000007.14:g.128 499519_128999613de lT	GRCh38.p12	First Pass	NC_000007.14	Chr7	128,499,519	128,999,613
essv5594750	Remapped	Perfect	NC_000007.14:g.128 499519_128999613de lT	GRCh38.p12	First Pass	NC_000007.14	Chr7	128,499,519	128,999,613
essv5624786	Remapped	Perfect	NC_000007.14:g.128 499519_128999613de lT	GRCh38.p12	First Pass	NC_000007.14	Chr7	128,499,519	128,999,613
essv5626300	Remapped	Perfect	NC_000007.14:g.128 499519_128999613de lT	GRCh38.p12	First Pass	NC_000007.14	Chr7	128,499,519	128,999,613
essv5633349	Remapped	Perfect	NC_000007.14:g.128 499519_128999613de lT	GRCh38.p12	First Pass	NC_000007.14	Chr7	128,499,519	128,999,613
essv5655540	Remapped	Perfect	NC_000007.14:g.128 499519_128999613de lT	GRCh38.p12	First Pass	NC_000007.14	Chr7	128,499,519	128,999,613
essv5661209	Remapped	Perfect	NC_000007.14:g.128 499519_128999613de lT	GRCh38.p12	First Pass	NC_000007.14	Chr7	128,499,519	128,999,613
essv5722412	Remapped	Perfect	NC_000007.14:g.128 499519_128999613de lT	GRCh38.p12	First Pass	NC_000007.14	Chr7	128,499,519	128,999,613
essv5726014	Remapped	Perfect	NC_000007.14:g.128 499519_128999613de lT	GRCh38.p12	First Pass	NC_000007.14	Chr7	128,499,519	128,999,613
essv5731896	Remapped	Perfect	NC_000007.14:g.128 499519_128999613de lT	GRCh38.p12	First Pass	NC_000007.14	Chr7	128,499,519	128,999,613
essv5734652	Remapped	Perfect	NC_000007.14:g.128 499519_128999613de lT	GRCh38.p12	First Pass	NC_000007.14	Chr7	128,499,519	128,999,613
essv5763969	Remapped	Perfect	NC_000007.14:g.128 499519_128999613de lT	GRCh38.p12	First Pass	NC_000007.14	Chr7	128,499,519	128,999,613
essv5777843	Remapped	Perfect	NC_000007.14:g.128 499519_128999613de lT	GRCh38.p12	First Pass	NC_000007.14	Chr7	128,499,519	128,999,613
essv5802274	Remapped	Perfect	NC_000007.14:g.128 499519_128999613de lT	GRCh38.p12	First Pass	NC_000007.14	Chr7	128,499,519	128,999,613
essv5841029	Remapped	Perfect	NC_000007.14:g.128 499519_128999613de lT	GRCh38.p12	First Pass	NC_000007.14	Chr7	128,499,519	128,999,613
essv5846160	Remapped	Perfect	NC_000007.14:g.128 499519_128999613de lT	GRCh38.p12	First Pass	NC_000007.14	Chr7	128,499,519	128,999,613
essv5863495	Remapped	Perfect	NC_000007.14:g.128 499519_128999613de lT	GRCh38.p12	First Pass	NC_000007.14	Chr7	128,499,519	128,999,613
essv5889428	Remapped	Perfect	NC_000007.14:g.128 499519_128999613de lT	GRCh38.p12	First Pass	NC_000007.14	Chr7	128,499,519	128,999,613
essv5897032	Remapped	Perfect	NC_000007.14:g.128 499519_128999613de lT	GRCh38.p12	First Pass	NC_000007.14	Chr7	128,499,519	128,999,613
essv5907722	Remapped	Perfect	NC_000007.14:g.128 499519_128999613de lT	GRCh38.p12	First Pass	NC_000007.14	Chr7	128,499,519	128,999,613
essv5912425	Remapped	Perfect	NC_000007.14:g.128 499519_128999613de lT	GRCh38.p12	First Pass	NC_000007.14	Chr7	128,499,519	128,999,613
essv5916805	Remapped	Perfect	NC_000007.14:g.128 499519_128999613de lT	GRCh38.p12	First Pass	NC_000007.14	Chr7	128,499,519	128,999,613
essv5924085	Remapped	Perfect	NC_000007.14:g.128 499519_128999613de lT	GRCh38.p12	First Pass	NC_000007.14	Chr7	128,499,519	128,999,613
essv5936644	Remapped	Perfect	NC_000007.14:g.128 499519_128999613de lT	GRCh38.p12	First Pass	NC_000007.14	Chr7	128,499,519	128,999,613
essv5946759	Remapped	Perfect	NC_000007.14:g.128 499519_128999613de lT	GRCh38.p12	First Pass	NC_000007.14	Chr7	128,499,519	128,999,613
essv5962547	Remapped	Perfect	NC_000007.14:g.128 499519_128999613de lT	GRCh38.p12	First Pass	NC_000007.14	Chr7	128,499,519	128,999,613
essv6009562	Remapped	Perfect	NC_000007.14:g.128 499519_128999613de lT	GRCh38.p12	First Pass	NC_000007.14	Chr7	128,499,519	128,999,613
essv6017238	Remapped	Perfect	NC_000007.14:g.128 499519_128999613de lT	GRCh38.p12	First Pass	NC_000007.14	Chr7	128,499,519	128,999,613
essv6027006	Remapped	Perfect	NC_000007.14:g.128 499519_128999613de lT	GRCh38.p12	First Pass	NC_000007.14	Chr7	128,499,519	128,999,613
essv6027977	Remapped	Perfect	NC_000007.14:g.128 499519_128999613de lT	GRCh38.p12	First Pass	NC_000007.14	Chr7	128,499,519	128,999,613
essv6043503	Remapped	Perfect	NC_000007.14:g.128 499519_128999613de lT	GRCh38.p12	First Pass	NC_000007.14	Chr7	128,499,519	128,999,613
essv6049251	Remapped	Perfect	NC_000007.14:g.128 499519_128999613de lT	GRCh38.p12	First Pass	NC_000007.14	Chr7	128,499,519	128,999,613
essv6071038	Remapped	Perfect	NC_000007.14:g.128 499519_128999613de lT	GRCh38.p12	First Pass	NC_000007.14	Chr7	128,499,519	128,999,613
essv6079311	Remapped	Perfect	NC_000007.14:g.128 499519_128999613de lT	GRCh38.p12	First Pass	NC_000007.14	Chr7	128,499,519	128,999,613
essv6084269	Remapped	Perfect	NC_000007.14:g.128 499519_128999613de lT	GRCh38.p12	First Pass	NC_000007.14	Chr7	128,499,519	128,999,613
essv6090860	Remapped	Perfect	NC_000007.14:g.128 499519_128999613de lT	GRCh38.p12	First Pass	NC_000007.14	Chr7	128,499,519	128,999,613
essv6128909	Remapped	Perfect	NC_000007.14:g.128 499519_128999613de lT	GRCh38.p12	First Pass	NC_000007.14	Chr7	128,499,519	128,999,613
essv6131720	Remapped	Perfect	NC_000007.14:g.128 499519_128999613de lT	GRCh38.p12	First Pass	NC_000007.14	Chr7	128,499,519	128,999,613
essv6142563	Remapped	Perfect	NC_000007.14:g.128 499519_128999613de lT	GRCh38.p12	First Pass	NC_000007.14	Chr7	128,499,519	128,999,613
essv6171066	Remapped	Perfect	NC_000007.14:g.128 499519_128999613de lT	GRCh38.p12	First Pass	NC_000007.14	Chr7	128,499,519	128,999,613
essv6191061	Remapped	Perfect	NC_000007.14:g.128 499519_128999613de lT	GRCh38.p12	First Pass	NC_000007.14	Chr7	128,499,519	128,999,613
essv6198589	Remapped	Perfect	NC_000007.14:g.128 499519_128999613de lT	GRCh38.p12	First Pass	NC_000007.14	Chr7	128,499,519	128,999,613
essv6199617	Remapped	Perfect	NC_000007.14:g.128 499519_128999613de lT	GRCh38.p12	First Pass	NC_000007.14	Chr7	128,499,519	128,999,613
essv6235239	Remapped	Perfect	NC_000007.14:g.128 499519_128999613de lT	GRCh38.p12	First Pass	NC_000007.14	Chr7	128,499,519	128,999,613
essv6254141	Remapped	Perfect	NC_000007.14:g.128 499519_128999613de lT	GRCh38.p12	First Pass	NC_000007.14	Chr7	128,499,519	128,999,613
essv6294007	Remapped	Perfect	NC_000007.14:g.128 499519_128999613de lT	GRCh38.p12	First Pass	NC_000007.14	Chr7	128,499,519	128,999,613
essv6326650	Remapped	Perfect	NC_000007.14:g.128 499519_128999613de lT	GRCh38.p12	First Pass	NC_000007.14	Chr7	128,499,519	128,999,613
essv6337003	Remapped	Perfect	NC_000007.14:g.128 499519_128999613de lT	GRCh38.p12	First Pass	NC_000007.14	Chr7	128,499,519	128,999,613
essv6340453	Remapped	Perfect	NC_000007.14:g.128 499519_128999613de lT	GRCh38.p12	First Pass	NC_000007.14	Chr7	128,499,519	128,999,613
essv6346771	Remapped	Perfect	NC_000007.14:g.128 499519_128999613de lT	GRCh38.p12	First Pass	NC_000007.14	Chr7	128,499,519	128,999,613
essv6363165	Remapped	Perfect	NC_000007.14:g.128 499519_128999613de lT	GRCh38.p12	First Pass	NC_000007.14	Chr7	128,499,519	128,999,613
essv6371764	Remapped	Perfect	NC_000007.14:g.128 499519_128999613de lT	GRCh38.p12	First Pass	NC_000007.14	Chr7	128,499,519	128,999,613
essv6386291	Remapped	Perfect	NC_000007.14:g.128 499519_128999613de lT	GRCh38.p12	First Pass	NC_000007.14	Chr7	128,499,519	128,999,613
essv6390550	Remapped	Perfect	NC_000007.14:g.128 499519_128999613de lT	GRCh38.p12	First Pass	NC_000007.14	Chr7	128,499,519	128,999,613
essv6394423	Remapped	Perfect	NC_000007.14:g.128 499519_128999613de lT	GRCh38.p12	First Pass	NC_000007.14	Chr7	128,499,519	128,999,613
essv6406786	Remapped	Perfect	NC_000007.14:g.128 499519_128999613de lT	GRCh38.p12	First Pass	NC_000007.14	Chr7	128,499,519	128,999,613
essv6414768	Remapped	Perfect	NC_000007.14:g.128 499519_128999613de lT	GRCh38.p12	First Pass	NC_000007.14	Chr7	128,499,519	128,999,613
essv6420733	Remapped	Perfect	NC_000007.14:g.128 499519_128999613de lT	GRCh38.p12	First Pass	NC_000007.14	Chr7	128,499,519	128,999,613
essv6441505	Remapped	Perfect	NC_000007.14:g.128 499519_128999613de lT	GRCh38.p12	First Pass	NC_000007.14	Chr7	128,499,519	128,999,613
essv6447426	Remapped	Perfect	NC_000007.14:g.128 499519_128999613de lT	GRCh38.p12	First Pass	NC_000007.14	Chr7	128,499,519	128,999,613
essv6488029	Remapped	Perfect	NC_000007.14:g.128 499519_128999613de lT	GRCh38.p12	First Pass	NC_000007.14	Chr7	128,499,519	128,999,613
essv6497785	Remapped	Perfect	NC_000007.14:g.128 499519_128999613de lT	GRCh38.p12	First Pass	NC_000007.14	Chr7	128,499,519	128,999,613
essv6504695	Remapped	Perfect	NC_000007.14:g.128 499519_128999613de lT	GRCh38.p12	First Pass	NC_000007.14	Chr7	128,499,519	128,999,613
essv6507483	Remapped	Perfect	NC_000007.14:g.128 499519_128999613de lT	GRCh38.p12	First Pass	NC_000007.14	Chr7	128,499,519	128,999,613
essv6510092	Remapped	Perfect	NC_000007.14:g.128 499519_128999613de lT	GRCh38.p12	First Pass	NC_000007.14	Chr7	128,499,519	128,999,613
essv6518714	Remapped	Perfect	NC_000007.14:g.128 499519_128999613de lT	GRCh38.p12	First Pass	NC_000007.14	Chr7	128,499,519	128,999,613
essv6531247	Remapped	Perfect	NC_000007.14:g.128 499519_128999613de lT	GRCh38.p12	First Pass	NC_000007.14	Chr7	128,499,519	128,999,613
essv6593141	Remapped	Perfect	NC_000007.14:g.128 499519_128999613de lT	GRCh38.p12	First Pass	NC_000007.14	Chr7	128,499,519	128,999,613
essv6596153	Remapped	Perfect	NC_000007.14:g.128 499519_128999613de lT	GRCh38.p12	First Pass	NC_000007.14	Chr7	128,499,519	128,999,613
essv6598231	Remapped	Perfect	NC_000007.14:g.128 499519_128999613de lT	GRCh38.p12	First Pass	NC_000007.14	Chr7	128,499,519	128,999,613
essv5417337	Submitted genomic		NC_000007.13:g.128 139573_128639667de lT	GRCh37 (hg19)		NC_000007.13	Chr7	128,139,573	128,639,667
essv5448280	Submitted genomic		NC_000007.13:g.128 139573_128639667de lT	GRCh37 (hg19)		NC_000007.13	Chr7	128,139,573	128,639,667
essv5456654	Submitted genomic		NC_000007.13:g.128 139573_128639667de lT	GRCh37 (hg19)		NC_000007.13	Chr7	128,139,573	128,639,667
essv5459583	Submitted genomic		NC_000007.13:g.128 139573_128639667de lT	GRCh37 (hg19)		NC_000007.13	Chr7	128,139,573	128,639,667
essv5459587	Submitted genomic		NC_000007.13:g.128 139573_128639667de lT	GRCh37 (hg19)		NC_000007.13	Chr7	128,139,573	128,639,667
essv5462249	Submitted genomic		NC_000007.13:g.128 139573_128639667de lT	GRCh37 (hg19)		NC_000007.13	Chr7	128,139,573	128,639,667
essv5508369	Submitted genomic		NC_000007.13:g.128 139573_128639667de lT	GRCh37 (hg19)		NC_000007.13	Chr7	128,139,573	128,639,667
essv5516022	Submitted genomic		NC_000007.13:g.128 139573_128639667de lT	GRCh37 (hg19)		NC_000007.13	Chr7	128,139,573	128,639,667
essv5519842	Submitted genomic		NC_000007.13:g.128 139573_128639667de lT	GRCh37 (hg19)		NC_000007.13	Chr7	128,139,573	128,639,667
essv5534742	Submitted genomic		NC_000007.13:g.128 139573_128639667de lT	GRCh37 (hg19)		NC_000007.13	Chr7	128,139,573	128,639,667
essv5535984	Submitted genomic		NC_000007.13:g.128 139573_128639667de lT	GRCh37 (hg19)		NC_000007.13	Chr7	128,139,573	128,639,667
essv5549674	Submitted genomic		NC_000007.13:g.128 139573_128639667de lT	GRCh37 (hg19)		NC_000007.13	Chr7	128,139,573	128,639,667
essv5549966	Submitted genomic		NC_000007.13:g.128 139573_128639667de lT	GRCh37 (hg19)		NC_000007.13	Chr7	128,139,573	128,639,667
essv5555942	Submitted genomic		NC_000007.13:g.128 139573_128639667de lT	GRCh37 (hg19)		NC_000007.13	Chr7	128,139,573	128,639,667
essv5557137	Submitted genomic		NC_000007.13:g.128 139573_128639667de lT	GRCh37 (hg19)		NC_000007.13	Chr7	128,139,573	128,639,667

Showing 100 of 170

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
essv5726014	9	SAMN00000432	Oligo aCGH	Probe signal intensity	Pass
essv5846160	9	SAMN00000439	Oligo aCGH	Probe signal intensity	Pass
essv5936644	9	SAMN00000441	Oligo aCGH	Probe signal intensity	Pass
essv5557137	9	SAMN00000455	Oligo aCGH	Probe signal intensity	Pass
essv5626300	9	SAMN00000459	Oligo aCGH	Probe signal intensity	Pass
essv6488029	9	SAMN00000460	Oligo aCGH	Probe signal intensity	Pass
essv6084269	9	SAMN00000475	Oligo aCGH	Probe signal intensity	Pass
essv5722412	9	SAMN00000510	Oligo aCGH	Probe signal intensity	Pass
essv5535984	9	SAMN00000514	Oligo aCGH	Probe signal intensity	Pass
essv5863495	9	SAMN00000517	Oligo aCGH	Probe signal intensity	Pass
essv6518714	9	SAMN00000528	Oligo aCGH	Probe signal intensity	Pass
essv6071038	9	SAMN00000530	Oligo aCGH	Probe signal intensity	Pass
essv5731896	9	SAMN00000568	Oligo aCGH	Probe signal intensity	Pass
essv5777843	9	SAMN00000571	Oligo aCGH	Probe signal intensity	Pass
essv6507483	9	SAMN00000923	Oligo aCGH	Probe signal intensity	Pass
essv6326650	9	SAMN00000926	Oligo aCGH	Probe signal intensity	Pass
essv6406786	9	SAMN00001121	Oligo aCGH	Probe signal intensity	Pass
essv6199617	9	SAMN00001191	Oligo aCGH	Probe signal intensity	Pass
essv5912425	9	SAMN00001192	Oligo aCGH	Probe signal intensity	Pass
essv5456654	9	SAMN00001255	Oligo aCGH	Probe signal intensity	Pass
essv6390550	9	SAMN00001265	Oligo aCGH	Probe signal intensity	Pass
essv6294007	9	SAMN00001586	Oligo aCGH	Probe signal intensity	Pass
essv6371764	9	SAMN00001602	Oligo aCGH	Probe signal intensity	Pass
essv6596153	9	SAMN00001603	Oligo aCGH	Probe signal intensity	Pass
essv6128909	9	SAMN00001632	Oligo aCGH	Probe signal intensity	Pass
essv6593141	9	SAMN00001635	Oligo aCGH	Probe signal intensity	Pass
essv6254141	9	SAMN00001639	Oligo aCGH	Probe signal intensity	Pass
essv6340453	9	SAMN00001640	Oligo aCGH	Probe signal intensity	Pass
essv6198589	9	SAMN00001641	Oligo aCGH	Probe signal intensity	Pass
essv6171066	9	SAMN00001656	Oligo aCGH	Probe signal intensity	Pass
essv6447426	9	SAMN00001662	Oligo aCGH	Probe signal intensity	Pass
essv5734652	9	SAMN00001668	Oligo aCGH	Probe signal intensity	Pass
essv5841029	9	SAMN00004651	Oligo aCGH	Probe signal intensity	Pass
essv5763969	9	SAMN00004670	Oligo aCGH	Probe signal intensity	Pass
essv6049251	9	SAMN00004696	Oligo aCGH	Probe signal intensity	Pass
essv5916805	9	SAMN00006344	Oligo aCGH	Probe signal intensity	Pass
essv5508369	9	SAMN00006372	Oligo aCGH	Probe signal intensity	Pass
essv6131720	9	SAMN00006442	Oligo aCGH	Probe signal intensity	Pass
essv5594750	9	SAMN00006445	Oligo aCGH	Probe signal intensity	Pass
essv5519842	9	SAMN00006463	Oligo aCGH	Probe signal intensity	Pass
essv6337003	9	SAMN00006493	Oligo aCGH	Probe signal intensity	Pass
essv6235239	9	SAMN00006543	Oligo aCGH	Probe signal intensity	Pass
essv6386291	9	SAMN00006546	Oligo aCGH	Probe signal intensity	Pass
essv5907722	9	SAMN00006549	Oligo aCGH	Probe signal intensity	Pass
essv5549966	9	SAMN00006550	Oligo aCGH	Probe signal intensity	Pass
essv6598231	9	SAMN00006552	Oligo aCGH	Probe signal intensity	Pass
essv5516022	9	SAMN00006556	Oligo aCGH	Probe signal intensity	Pass
essv5448280	9	SAMN00006558	Oligo aCGH	Probe signal intensity	Pass
essv6363165	9	SAMN00006559	Oligo aCGH	Probe signal intensity	Pass
essv5534742	9	SAMN00006562	Oligo aCGH	Probe signal intensity	Pass
essv5889428	9	SAMN00006564	Oligo aCGH	Probe signal intensity	Pass
essv6009562	9	SAMN00006820	Oligo aCGH	Probe signal intensity	Pass
essv6191061	9	SAMN00007722	Oligo aCGH	Probe signal intensity	Pass
essv6497785	9	SAMN00007723	Oligo aCGH	Probe signal intensity	Pass
essv6510092	9	SAMN00007753	Oligo aCGH	Probe signal intensity	Pass
essv6346771	9	SAMN00007764	Oligo aCGH	Probe signal intensity	Pass
essv6079311	9	SAMN00007767	Oligo aCGH	Probe signal intensity	Pass
essv5962547	9	SAMN00007773	Oligo aCGH	Probe signal intensity	Pass
essv5661209	9	SAMN00007779	Oligo aCGH	Probe signal intensity	Pass
essv6027006	9	SAMN00007791	Oligo aCGH	Probe signal intensity	Pass
essv6027977	9	SAMN00007792	Oligo aCGH	Probe signal intensity	Pass
essv6090860	9	SAMN00007798	Oligo aCGH	Probe signal intensity	Pass
essv5462249	9	SAMN00007845	Oligo aCGH	Probe signal intensity	Pass
essv5549674	9	SAMN00007866	Oligo aCGH	Probe signal intensity	Pass
essv5624786	9	SAMN00009095	Oligo aCGH	Probe signal intensity	Pass
essv5924085	9	SAMN00009103	Oligo aCGH	Probe signal intensity	Pass
essv5633349	9	SAMN00009106	Oligo aCGH	Probe signal intensity	Pass
essv6531247	9	SAMN00009117	Oligo aCGH	Probe signal intensity	Pass
essv6414768	9	SAMN00009123	Oligo aCGH	Probe signal intensity	Pass
essv5459587	9	SAMN00009136	Oligo aCGH	Probe signal intensity	Pass
essv6504695	9	SAMN00009154	Oligo aCGH	Probe signal intensity	Pass
essv6142563	9	SAMN00009205	Oligo aCGH	Probe signal intensity	Pass
essv5802274	9	SAMN00009248	Oligo aCGH	Probe signal intensity	Pass
essv5417337	9	SAMN00009250	Oligo aCGH	Probe signal intensity	Pass
essv6017238	9	SAMN00014312	Oligo aCGH	Probe signal intensity	Pass
essv5655540	9	SAMN00014314	Oligo aCGH	Probe signal intensity	Pass
essv6420733	9	SAMN00014317	Oligo aCGH	Probe signal intensity	Pass
essv6441505	9	SAMN00014326	Oligo aCGH	Probe signal intensity	Pass
essv5946759	9	SAMN00014341	Oligo aCGH	Probe signal intensity	Pass
essv5459583	9	SAMN00797419	Oligo aCGH	Probe signal intensity	Pass
essv6043503	9	SAMN00800266	Oligo aCGH	Probe signal intensity	Pass
essv6394423	9	SAMN00800947	Oligo aCGH	Probe signal intensity	Pass
essv5572843	9	SAMN00801049	Oligo aCGH	Probe signal intensity	Pass
essv5897032	9	SAMN00801103	Oligo aCGH	Probe signal intensity	Pass
essv5555942	9	SAMN00801418	Oligo aCGH	Probe signal intensity	Pass
essv5726014	7	SAMN00000432	SNP array	Probe signal intensity	Pass
essv5846160	7	SAMN00000439	SNP array	Probe signal intensity	Pass
essv5936644	7	SAMN00000441	SNP array	Probe signal intensity	Pass
essv5557137	7	SAMN00000455	SNP array	Probe signal intensity	Pass
essv5626300	7	SAMN00000459	SNP array	Probe signal intensity	Pass
essv6488029	7	SAMN00000460	SNP array	Probe signal intensity	Pass
essv6084269	7	SAMN00000475	SNP array	Probe signal intensity	Pass
essv5722412	7	SAMN00000510	SNP array	Probe signal intensity	Pass
essv5535984	7	SAMN00000514	SNP array	Probe signal intensity	Pass
essv5863495	7	SAMN00000517	SNP array	Probe signal intensity	Pass
essv6518714	7	SAMN00000528	SNP array	Probe signal intensity	Pass
essv6071038	7	SAMN00000530	SNP array	Probe signal intensity	Pass
essv5731896	7	SAMN00000568	SNP array	Probe signal intensity	Pass
essv5777843	7	SAMN00000571	SNP array	Probe signal intensity	Pass
essv6507483	7	SAMN00000923	SNP array	Probe signal intensity	Pass
essv6326650	7	SAMN00000926	SNP array	Probe signal intensity	Pass
essv6406786	7	SAMN00001121	SNP array	Probe signal intensity	Pass
essv6199617	7	SAMN00001191	SNP array	Probe signal intensity	Pass
essv5912425	7	SAMN00001192	SNP array	Probe signal intensity	Pass
essv5456654	7	SAMN00001255	SNP array	Probe signal intensity	Pass
essv6390550	7	SAMN00001265	SNP array	Probe signal intensity	Pass
essv6294007	7	SAMN00001586	SNP array	Probe signal intensity	Pass
essv6371764	7	SAMN00001602	SNP array	Probe signal intensity	Pass
essv6596153	7	SAMN00001603	SNP array	Probe signal intensity	Pass
essv6128909	7	SAMN00001632	SNP array	Probe signal intensity	Pass
essv6593141	7	SAMN00001635	SNP array	Probe signal intensity	Pass
essv6254141	7	SAMN00001639	SNP array	Probe signal intensity	Pass
essv6340453	7	SAMN00001640	SNP array	Probe signal intensity	Pass
essv6198589	7	SAMN00001641	SNP array	Probe signal intensity	Pass
essv6171066	7	SAMN00001656	SNP array	Probe signal intensity	Pass
essv6447426	7	SAMN00001662	SNP array	Probe signal intensity	Pass
essv5734652	7	SAMN00001668	SNP array	Probe signal intensity	Pass
essv5841029	7	SAMN00004651	SNP array	Probe signal intensity	Pass
essv5763969	7	SAMN00004670	SNP array	Probe signal intensity	Pass
essv6049251	7	SAMN00004696	SNP array	Probe signal intensity	Pass
essv5916805	7	SAMN00006344	SNP array	Probe signal intensity	Pass
essv5508369	7	SAMN00006372	SNP array	Probe signal intensity	Pass
essv6131720	7	SAMN00006442	SNP array	Probe signal intensity	Pass
essv5594750	7	SAMN00006445	SNP array	Probe signal intensity	Pass
essv5519842	7	SAMN00006463	SNP array	Probe signal intensity	Pass
essv6337003	7	SAMN00006493	SNP array	Probe signal intensity	Pass
essv6235239	7	SAMN00006543	SNP array	Probe signal intensity	Pass
essv6386291	7	SAMN00006546	SNP array	Probe signal intensity	Pass
essv5907722	7	SAMN00006549	SNP array	Probe signal intensity	Pass
essv5549966	7	SAMN00006550	SNP array	Probe signal intensity	Pass
essv6598231	7	SAMN00006552	SNP array	Probe signal intensity	Pass
essv5516022	7	SAMN00006556	SNP array	Probe signal intensity	Pass
essv5448280	7	SAMN00006558	SNP array	Probe signal intensity	Pass
essv6363165	7	SAMN00006559	SNP array	Probe signal intensity	Pass
essv5534742	7	SAMN00006562	SNP array	Probe signal intensity	Pass
essv5889428	7	SAMN00006564	SNP array	Probe signal intensity	Pass
essv6009562	7	SAMN00006820	SNP array	Probe signal intensity	Pass
essv6191061	7	SAMN00007722	SNP array	Probe signal intensity	Pass
essv6497785	7	SAMN00007723	SNP array	Probe signal intensity	Pass
essv6510092	7	SAMN00007753	SNP array	Probe signal intensity	Pass
essv6346771	7	SAMN00007764	SNP array	Probe signal intensity	Pass
essv6079311	7	SAMN00007767	SNP array	Probe signal intensity	Pass
essv5962547	7	SAMN00007773	SNP array	Probe signal intensity	Pass
essv5661209	7	SAMN00007779	SNP array	Probe signal intensity	Pass
essv6027006	7	SAMN00007791	SNP array	Probe signal intensity	Pass
essv6027977	7	SAMN00007792	SNP array	Probe signal intensity	Pass
essv6090860	7	SAMN00007798	SNP array	Probe signal intensity	Pass
essv5462249	7	SAMN00007845	SNP array	Probe signal intensity	Pass
essv5549674	7	SAMN00007866	SNP array	Probe signal intensity	Pass
essv5624786	7	SAMN00009095	SNP array	Probe signal intensity	Pass
essv5924085	7	SAMN00009103	SNP array	Probe signal intensity	Pass
essv5633349	7	SAMN00009106	SNP array	Probe signal intensity	Pass
essv6531247	7	SAMN00009117	SNP array	Probe signal intensity	Pass
essv6414768	7	SAMN00009123	SNP array	Probe signal intensity	Pass
essv5459587	7	SAMN00009136	SNP array	Probe signal intensity	Pass
essv6504695	7	SAMN00009154	SNP array	Probe signal intensity	Pass
essv6142563	7	SAMN00009205	SNP array	Probe signal intensity	Pass
essv5802274	7	SAMN00009248	SNP array	Probe signal intensity	Pass
essv5417337	7	SAMN00009250	SNP array	Probe signal intensity	Pass
essv6017238	7	SAMN00014312	SNP array	Probe signal intensity	Pass
essv5655540	7	SAMN00014314	SNP array	Probe signal intensity	Pass
essv6420733	7	SAMN00014317	SNP array	Probe signal intensity	Pass
essv6441505	7	SAMN00014326	SNP array	Probe signal intensity	Pass
essv5946759	7	SAMN00014341	SNP array	Probe signal intensity	Pass
essv5459583	7	SAMN00797419	SNP array	Probe signal intensity	Pass
essv6043503	7	SAMN00800266	SNP array	Probe signal intensity	Pass
essv6394423	7	SAMN00800947	SNP array	Probe signal intensity	Pass
essv5572843	7	SAMN00801049	SNP array	Probe signal intensity	Pass
essv5897032	7	SAMN00801103	SNP array	Probe signal intensity	Pass
essv5555942	7	SAMN00801418	SNP array	Probe signal intensity	Pass

dbVar

Database of genomic structural variation

esv2670312

Links to Other Resources

Genome View

Variant Region Placement Information

Variant Call Information

Variant Call Placement Information

Validation Information

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant