esv2663054

Organism: Homo sapiens

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

Variant Calls:51
Validation:Yes
Clinical Assertions: No
Region Size:8,824

Description:High quality site
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: 261 SVs from 55 studies. See in: genome view

Remapped(Score: Perfect):99,400,169-99,408,992

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv2663054	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000012.12	Chr12	99,400,169	99,408,992
esv2663054	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000012.11	Chr12	99,793,947	99,802,770

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv5433867	deletion	SAMN00006483	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	962
essv5465529	deletion	SAMN00001686	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	807
essv5479790	deletion	SAMN00000414	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,260
essv5481270	deletion	SAMN00000479	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,626
essv5511686	deletion	SAMN00006602	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	739
essv5521948	deletion	SAMN00006534	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	915
essv5570423	deletion	SAMN00001631	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,164
essv5591964	deletion	SAMN00001688	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	843
essv5595171	deletion	SAMN00006583	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,292
essv5599294	deletion	SAMN00009122	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,848
essv5635577	deletion	SAMN00009192	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,161
essv5697453	deletion	SAMN00009145	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,845
essv5703069	deletion	SAMN00006589	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,904
essv5738420	deletion	SAMN00000484	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	848
essv5803161	deletion	SAMN00000478	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,349
essv5834366	deletion	SAMN00001697	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,511
essv5868077	deletion	SAMN00001589	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,492
essv5889208	deletion	SAMN00000482	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	982
essv5938667	deletion	SAMN00001627	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,454
essv5948009	deletion	SAMN00000568	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,629
essv5968905	deletion	SAMN00001667	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,455
essv5989825	deletion	SAMN00000571	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,271
essv6014542	deletion	SAMN00001626	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,427
essv6021986	deletion	SAMN00009128	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,219
essv6034005	deletion	SAMN00000477	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,250
essv6066623	deletion	SAMN00001580	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,552
essv6072230	deletion	SAMN00009175	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,711
essv6085345	deletion	SAMN00001670	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	814
essv6150027	deletion	SAMN00001628	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,528
essv6164645	deletion	SAMN00001624	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,608
essv6165713	deletion	SAMN00009119	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,790
essv6200152	deletion	SAMN00001674	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,625
essv6207386	deletion	SAMN00001625	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,265
essv6268317	deletion	SAMN00009126	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,897
essv6279833	deletion	SAMN00000574	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,208
essv6281372	deletion	SAMN00006538	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,111
essv6287664	deletion	SAMN00001685	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,589
essv6293046	deletion	SAMN00001672	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	855
essv6297704	deletion	SAMN00001691	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	803
essv6360240	deletion	SAMN00009172	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,731
essv6364161	deletion	SAMN00001578	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,497
essv6378134	deletion	SAMN00009187	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,487
essv6379198	deletion	SAMN00009177	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	756
essv6384303	deletion	SAMN00000555	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,645
essv6398520	deletion	SAMN00001681	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	791
essv6473477	deletion	SAMN00001576	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,882
essv6503015	deletion	SAMN00009117	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,813
essv6510951	deletion	SAMN00001587	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,494
essv6512597	deletion	SAMN00000570	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	924
essv6515277	deletion	SAMN00001581	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,469
essv6588666	deletion	SAMN00006598	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,574

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv5433867	Remapped	Perfect	NC_000012.12:g.994 00169_99408992delT	GRCh38.p12	First Pass	NC_000012.12	Chr12	99,400,169	99,408,992
essv5465529	Remapped	Perfect	NC_000012.12:g.994 00169_99408992delT	GRCh38.p12	First Pass	NC_000012.12	Chr12	99,400,169	99,408,992
essv5479790	Remapped	Perfect	NC_000012.12:g.994 00169_99408992delT	GRCh38.p12	First Pass	NC_000012.12	Chr12	99,400,169	99,408,992
essv5481270	Remapped	Perfect	NC_000012.12:g.994 00169_99408992delT	GRCh38.p12	First Pass	NC_000012.12	Chr12	99,400,169	99,408,992
essv5511686	Remapped	Perfect	NC_000012.12:g.994 00169_99408992delT	GRCh38.p12	First Pass	NC_000012.12	Chr12	99,400,169	99,408,992
essv5521948	Remapped	Perfect	NC_000012.12:g.994 00169_99408992delT	GRCh38.p12	First Pass	NC_000012.12	Chr12	99,400,169	99,408,992
essv5570423	Remapped	Perfect	NC_000012.12:g.994 00169_99408992delT	GRCh38.p12	First Pass	NC_000012.12	Chr12	99,400,169	99,408,992
essv5591964	Remapped	Perfect	NC_000012.12:g.994 00169_99408992delT	GRCh38.p12	First Pass	NC_000012.12	Chr12	99,400,169	99,408,992
essv5595171	Remapped	Perfect	NC_000012.12:g.994 00169_99408992delT	GRCh38.p12	First Pass	NC_000012.12	Chr12	99,400,169	99,408,992
essv5599294	Remapped	Perfect	NC_000012.12:g.994 00169_99408992delT	GRCh38.p12	First Pass	NC_000012.12	Chr12	99,400,169	99,408,992
essv5635577	Remapped	Perfect	NC_000012.12:g.994 00169_99408992delT	GRCh38.p12	First Pass	NC_000012.12	Chr12	99,400,169	99,408,992
essv5697453	Remapped	Perfect	NC_000012.12:g.994 00169_99408992delT	GRCh38.p12	First Pass	NC_000012.12	Chr12	99,400,169	99,408,992
essv5703069	Remapped	Perfect	NC_000012.12:g.994 00169_99408992delT	GRCh38.p12	First Pass	NC_000012.12	Chr12	99,400,169	99,408,992
essv5738420	Remapped	Perfect	NC_000012.12:g.994 00169_99408992delT	GRCh38.p12	First Pass	NC_000012.12	Chr12	99,400,169	99,408,992
essv5803161	Remapped	Perfect	NC_000012.12:g.994 00169_99408992delT	GRCh38.p12	First Pass	NC_000012.12	Chr12	99,400,169	99,408,992
essv5834366	Remapped	Perfect	NC_000012.12:g.994 00169_99408992delT	GRCh38.p12	First Pass	NC_000012.12	Chr12	99,400,169	99,408,992
essv5868077	Remapped	Perfect	NC_000012.12:g.994 00169_99408992delT	GRCh38.p12	First Pass	NC_000012.12	Chr12	99,400,169	99,408,992
essv5889208	Remapped	Perfect	NC_000012.12:g.994 00169_99408992delT	GRCh38.p12	First Pass	NC_000012.12	Chr12	99,400,169	99,408,992
essv5938667	Remapped	Perfect	NC_000012.12:g.994 00169_99408992delT	GRCh38.p12	First Pass	NC_000012.12	Chr12	99,400,169	99,408,992
essv5948009	Remapped	Perfect	NC_000012.12:g.994 00169_99408992delT	GRCh38.p12	First Pass	NC_000012.12	Chr12	99,400,169	99,408,992
essv5968905	Remapped	Perfect	NC_000012.12:g.994 00169_99408992delT	GRCh38.p12	First Pass	NC_000012.12	Chr12	99,400,169	99,408,992
essv5989825	Remapped	Perfect	NC_000012.12:g.994 00169_99408992delT	GRCh38.p12	First Pass	NC_000012.12	Chr12	99,400,169	99,408,992
essv6014542	Remapped	Perfect	NC_000012.12:g.994 00169_99408992delT	GRCh38.p12	First Pass	NC_000012.12	Chr12	99,400,169	99,408,992
essv6021986	Remapped	Perfect	NC_000012.12:g.994 00169_99408992delT	GRCh38.p12	First Pass	NC_000012.12	Chr12	99,400,169	99,408,992
essv6034005	Remapped	Perfect	NC_000012.12:g.994 00169_99408992delT	GRCh38.p12	First Pass	NC_000012.12	Chr12	99,400,169	99,408,992
essv6066623	Remapped	Perfect	NC_000012.12:g.994 00169_99408992delT	GRCh38.p12	First Pass	NC_000012.12	Chr12	99,400,169	99,408,992
essv6072230	Remapped	Perfect	NC_000012.12:g.994 00169_99408992delT	GRCh38.p12	First Pass	NC_000012.12	Chr12	99,400,169	99,408,992
essv6085345	Remapped	Perfect	NC_000012.12:g.994 00169_99408992delT	GRCh38.p12	First Pass	NC_000012.12	Chr12	99,400,169	99,408,992
essv6150027	Remapped	Perfect	NC_000012.12:g.994 00169_99408992delT	GRCh38.p12	First Pass	NC_000012.12	Chr12	99,400,169	99,408,992
essv6164645	Remapped	Perfect	NC_000012.12:g.994 00169_99408992delT	GRCh38.p12	First Pass	NC_000012.12	Chr12	99,400,169	99,408,992
essv6165713	Remapped	Perfect	NC_000012.12:g.994 00169_99408992delT	GRCh38.p12	First Pass	NC_000012.12	Chr12	99,400,169	99,408,992
essv6200152	Remapped	Perfect	NC_000012.12:g.994 00169_99408992delT	GRCh38.p12	First Pass	NC_000012.12	Chr12	99,400,169	99,408,992
essv6207386	Remapped	Perfect	NC_000012.12:g.994 00169_99408992delT	GRCh38.p12	First Pass	NC_000012.12	Chr12	99,400,169	99,408,992
essv6268317	Remapped	Perfect	NC_000012.12:g.994 00169_99408992delT	GRCh38.p12	First Pass	NC_000012.12	Chr12	99,400,169	99,408,992
essv6279833	Remapped	Perfect	NC_000012.12:g.994 00169_99408992delT	GRCh38.p12	First Pass	NC_000012.12	Chr12	99,400,169	99,408,992
essv6281372	Remapped	Perfect	NC_000012.12:g.994 00169_99408992delT	GRCh38.p12	First Pass	NC_000012.12	Chr12	99,400,169	99,408,992
essv6287664	Remapped	Perfect	NC_000012.12:g.994 00169_99408992delT	GRCh38.p12	First Pass	NC_000012.12	Chr12	99,400,169	99,408,992
essv6293046	Remapped	Perfect	NC_000012.12:g.994 00169_99408992delT	GRCh38.p12	First Pass	NC_000012.12	Chr12	99,400,169	99,408,992
essv6297704	Remapped	Perfect	NC_000012.12:g.994 00169_99408992delT	GRCh38.p12	First Pass	NC_000012.12	Chr12	99,400,169	99,408,992
essv6360240	Remapped	Perfect	NC_000012.12:g.994 00169_99408992delT	GRCh38.p12	First Pass	NC_000012.12	Chr12	99,400,169	99,408,992
essv6364161	Remapped	Perfect	NC_000012.12:g.994 00169_99408992delT	GRCh38.p12	First Pass	NC_000012.12	Chr12	99,400,169	99,408,992
essv6378134	Remapped	Perfect	NC_000012.12:g.994 00169_99408992delT	GRCh38.p12	First Pass	NC_000012.12	Chr12	99,400,169	99,408,992
essv6379198	Remapped	Perfect	NC_000012.12:g.994 00169_99408992delT	GRCh38.p12	First Pass	NC_000012.12	Chr12	99,400,169	99,408,992
essv6384303	Remapped	Perfect	NC_000012.12:g.994 00169_99408992delT	GRCh38.p12	First Pass	NC_000012.12	Chr12	99,400,169	99,408,992
essv6398520	Remapped	Perfect	NC_000012.12:g.994 00169_99408992delT	GRCh38.p12	First Pass	NC_000012.12	Chr12	99,400,169	99,408,992
essv6473477	Remapped	Perfect	NC_000012.12:g.994 00169_99408992delT	GRCh38.p12	First Pass	NC_000012.12	Chr12	99,400,169	99,408,992
essv6503015	Remapped	Perfect	NC_000012.12:g.994 00169_99408992delT	GRCh38.p12	First Pass	NC_000012.12	Chr12	99,400,169	99,408,992
essv6510951	Remapped	Perfect	NC_000012.12:g.994 00169_99408992delT	GRCh38.p12	First Pass	NC_000012.12	Chr12	99,400,169	99,408,992
essv6512597	Remapped	Perfect	NC_000012.12:g.994 00169_99408992delT	GRCh38.p12	First Pass	NC_000012.12	Chr12	99,400,169	99,408,992
essv6515277	Remapped	Perfect	NC_000012.12:g.994 00169_99408992delT	GRCh38.p12	First Pass	NC_000012.12	Chr12	99,400,169	99,408,992
essv6588666	Remapped	Perfect	NC_000012.12:g.994 00169_99408992delT	GRCh38.p12	First Pass	NC_000012.12	Chr12	99,400,169	99,408,992
essv5433867	Submitted genomic		NC_000012.11:g.997 93947_99802770delT	GRCh37 (hg19)		NC_000012.11	Chr12	99,793,947	99,802,770
essv5465529	Submitted genomic		NC_000012.11:g.997 93947_99802770delT	GRCh37 (hg19)		NC_000012.11	Chr12	99,793,947	99,802,770
essv5479790	Submitted genomic		NC_000012.11:g.997 93947_99802770delT	GRCh37 (hg19)		NC_000012.11	Chr12	99,793,947	99,802,770
essv5481270	Submitted genomic		NC_000012.11:g.997 93947_99802770delT	GRCh37 (hg19)		NC_000012.11	Chr12	99,793,947	99,802,770
essv5511686	Submitted genomic		NC_000012.11:g.997 93947_99802770delT	GRCh37 (hg19)		NC_000012.11	Chr12	99,793,947	99,802,770
essv5521948	Submitted genomic		NC_000012.11:g.997 93947_99802770delT	GRCh37 (hg19)		NC_000012.11	Chr12	99,793,947	99,802,770
essv5570423	Submitted genomic		NC_000012.11:g.997 93947_99802770delT	GRCh37 (hg19)		NC_000012.11	Chr12	99,793,947	99,802,770
essv5591964	Submitted genomic		NC_000012.11:g.997 93947_99802770delT	GRCh37 (hg19)		NC_000012.11	Chr12	99,793,947	99,802,770
essv5595171	Submitted genomic		NC_000012.11:g.997 93947_99802770delT	GRCh37 (hg19)		NC_000012.11	Chr12	99,793,947	99,802,770
essv5599294	Submitted genomic		NC_000012.11:g.997 93947_99802770delT	GRCh37 (hg19)		NC_000012.11	Chr12	99,793,947	99,802,770
essv5635577	Submitted genomic		NC_000012.11:g.997 93947_99802770delT	GRCh37 (hg19)		NC_000012.11	Chr12	99,793,947	99,802,770
essv5697453	Submitted genomic		NC_000012.11:g.997 93947_99802770delT	GRCh37 (hg19)		NC_000012.11	Chr12	99,793,947	99,802,770
essv5703069	Submitted genomic		NC_000012.11:g.997 93947_99802770delT	GRCh37 (hg19)		NC_000012.11	Chr12	99,793,947	99,802,770
essv5738420	Submitted genomic		NC_000012.11:g.997 93947_99802770delT	GRCh37 (hg19)		NC_000012.11	Chr12	99,793,947	99,802,770
essv5803161	Submitted genomic		NC_000012.11:g.997 93947_99802770delT	GRCh37 (hg19)		NC_000012.11	Chr12	99,793,947	99,802,770
essv5834366	Submitted genomic		NC_000012.11:g.997 93947_99802770delT	GRCh37 (hg19)		NC_000012.11	Chr12	99,793,947	99,802,770
essv5868077	Submitted genomic		NC_000012.11:g.997 93947_99802770delT	GRCh37 (hg19)		NC_000012.11	Chr12	99,793,947	99,802,770
essv5889208	Submitted genomic		NC_000012.11:g.997 93947_99802770delT	GRCh37 (hg19)		NC_000012.11	Chr12	99,793,947	99,802,770
essv5938667	Submitted genomic		NC_000012.11:g.997 93947_99802770delT	GRCh37 (hg19)		NC_000012.11	Chr12	99,793,947	99,802,770
essv5948009	Submitted genomic		NC_000012.11:g.997 93947_99802770delT	GRCh37 (hg19)		NC_000012.11	Chr12	99,793,947	99,802,770
essv5968905	Submitted genomic		NC_000012.11:g.997 93947_99802770delT	GRCh37 (hg19)		NC_000012.11	Chr12	99,793,947	99,802,770
essv5989825	Submitted genomic		NC_000012.11:g.997 93947_99802770delT	GRCh37 (hg19)		NC_000012.11	Chr12	99,793,947	99,802,770
essv6014542	Submitted genomic		NC_000012.11:g.997 93947_99802770delT	GRCh37 (hg19)		NC_000012.11	Chr12	99,793,947	99,802,770
essv6021986	Submitted genomic		NC_000012.11:g.997 93947_99802770delT	GRCh37 (hg19)		NC_000012.11	Chr12	99,793,947	99,802,770
essv6034005	Submitted genomic		NC_000012.11:g.997 93947_99802770delT	GRCh37 (hg19)		NC_000012.11	Chr12	99,793,947	99,802,770
essv6066623	Submitted genomic		NC_000012.11:g.997 93947_99802770delT	GRCh37 (hg19)		NC_000012.11	Chr12	99,793,947	99,802,770
essv6072230	Submitted genomic		NC_000012.11:g.997 93947_99802770delT	GRCh37 (hg19)		NC_000012.11	Chr12	99,793,947	99,802,770
essv6085345	Submitted genomic		NC_000012.11:g.997 93947_99802770delT	GRCh37 (hg19)		NC_000012.11	Chr12	99,793,947	99,802,770
essv6150027	Submitted genomic		NC_000012.11:g.997 93947_99802770delT	GRCh37 (hg19)		NC_000012.11	Chr12	99,793,947	99,802,770
essv6164645	Submitted genomic		NC_000012.11:g.997 93947_99802770delT	GRCh37 (hg19)		NC_000012.11	Chr12	99,793,947	99,802,770
essv6165713	Submitted genomic		NC_000012.11:g.997 93947_99802770delT	GRCh37 (hg19)		NC_000012.11	Chr12	99,793,947	99,802,770
essv6200152	Submitted genomic		NC_000012.11:g.997 93947_99802770delT	GRCh37 (hg19)		NC_000012.11	Chr12	99,793,947	99,802,770
essv6207386	Submitted genomic		NC_000012.11:g.997 93947_99802770delT	GRCh37 (hg19)		NC_000012.11	Chr12	99,793,947	99,802,770
essv6268317	Submitted genomic		NC_000012.11:g.997 93947_99802770delT	GRCh37 (hg19)		NC_000012.11	Chr12	99,793,947	99,802,770
essv6279833	Submitted genomic		NC_000012.11:g.997 93947_99802770delT	GRCh37 (hg19)		NC_000012.11	Chr12	99,793,947	99,802,770
essv6281372	Submitted genomic		NC_000012.11:g.997 93947_99802770delT	GRCh37 (hg19)		NC_000012.11	Chr12	99,793,947	99,802,770
essv6287664	Submitted genomic		NC_000012.11:g.997 93947_99802770delT	GRCh37 (hg19)		NC_000012.11	Chr12	99,793,947	99,802,770
essv6293046	Submitted genomic		NC_000012.11:g.997 93947_99802770delT	GRCh37 (hg19)		NC_000012.11	Chr12	99,793,947	99,802,770
essv6297704	Submitted genomic		NC_000012.11:g.997 93947_99802770delT	GRCh37 (hg19)		NC_000012.11	Chr12	99,793,947	99,802,770
essv6360240	Submitted genomic		NC_000012.11:g.997 93947_99802770delT	GRCh37 (hg19)		NC_000012.11	Chr12	99,793,947	99,802,770
essv6364161	Submitted genomic		NC_000012.11:g.997 93947_99802770delT	GRCh37 (hg19)		NC_000012.11	Chr12	99,793,947	99,802,770
essv6378134	Submitted genomic		NC_000012.11:g.997 93947_99802770delT	GRCh37 (hg19)		NC_000012.11	Chr12	99,793,947	99,802,770
essv6379198	Submitted genomic		NC_000012.11:g.997 93947_99802770delT	GRCh37 (hg19)		NC_000012.11	Chr12	99,793,947	99,802,770
essv6384303	Submitted genomic		NC_000012.11:g.997 93947_99802770delT	GRCh37 (hg19)		NC_000012.11	Chr12	99,793,947	99,802,770
essv6398520	Submitted genomic		NC_000012.11:g.997 93947_99802770delT	GRCh37 (hg19)		NC_000012.11	Chr12	99,793,947	99,802,770
essv6473477	Submitted genomic		NC_000012.11:g.997 93947_99802770delT	GRCh37 (hg19)		NC_000012.11	Chr12	99,793,947	99,802,770
essv6503015	Submitted genomic		NC_000012.11:g.997 93947_99802770delT	GRCh37 (hg19)		NC_000012.11	Chr12	99,793,947	99,802,770
essv6510951	Submitted genomic		NC_000012.11:g.997 93947_99802770delT	GRCh37 (hg19)		NC_000012.11	Chr12	99,793,947	99,802,770
essv6512597	Submitted genomic		NC_000012.11:g.997 93947_99802770delT	GRCh37 (hg19)		NC_000012.11	Chr12	99,793,947	99,802,770

Showing 100 of 102

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
essv5479790	7	SAMN00000414	SNP array	Probe signal intensity	Pass
essv6034005	7	SAMN00000477	SNP array	Probe signal intensity	Pass
essv5803161	7	SAMN00000478	SNP array	Probe signal intensity	Pass
essv5481270	7	SAMN00000479	SNP array	Probe signal intensity	Pass
essv5889208	7	SAMN00000482	SNP array	Probe signal intensity	Pass
essv5738420	7	SAMN00000484	SNP array	Probe signal intensity	Pass
essv6384303	7	SAMN00000555	SNP array	Probe signal intensity	Pass
essv5948009	7	SAMN00000568	SNP array	Probe signal intensity	Pass
essv6512597	7	SAMN00000570	SNP array	Probe signal intensity	Pass
essv5989825	7	SAMN00000571	SNP array	Probe signal intensity	Pass
essv6279833	7	SAMN00000574	SNP array	Probe signal intensity	Pass
essv6473477	7	SAMN00001576	SNP array	Probe signal intensity	Pass
essv6364161	7	SAMN00001578	SNP array	Probe signal intensity	Pass
essv6066623	7	SAMN00001580	SNP array	Probe signal intensity	Pass
essv6515277	7	SAMN00001581	SNP array	Probe signal intensity	Pass
essv6510951	7	SAMN00001587	SNP array	Probe signal intensity	Pass
essv5868077	7	SAMN00001589	SNP array	Probe signal intensity	Pass
essv6164645	7	SAMN00001624	SNP array	Probe signal intensity	Pass
essv6207386	7	SAMN00001625	SNP array	Probe signal intensity	Pass
essv6014542	7	SAMN00001626	SNP array	Probe signal intensity	Pass
essv5938667	7	SAMN00001627	SNP array	Probe signal intensity	Pass
essv6150027	7	SAMN00001628	SNP array	Probe signal intensity	Pass
essv5570423	7	SAMN00001631	SNP array	Probe signal intensity	Pass
essv5968905	7	SAMN00001667	SNP array	Probe signal intensity	Pass
essv6085345	7	SAMN00001670	SNP array	Probe signal intensity	Pass
essv6293046	7	SAMN00001672	SNP array	Probe signal intensity	Pass
essv6200152	7	SAMN00001674	SNP array	Probe signal intensity	Pass
essv6398520	7	SAMN00001681	SNP array	Probe signal intensity	Pass
essv6287664	7	SAMN00001685	SNP array	Probe signal intensity	Pass
essv5465529	7	SAMN00001686	SNP array	Probe signal intensity	Pass
essv5591964	7	SAMN00001688	SNP array	Probe signal intensity	Pass
essv6297704	7	SAMN00001691	SNP array	Probe signal intensity	Pass
essv5834366	7	SAMN00001697	SNP array	Probe signal intensity	Pass
essv5433867	7	SAMN00006483	SNP array	Probe signal intensity	Pass
essv5521948	7	SAMN00006534	SNP array	Probe signal intensity	Pass
essv6281372	7	SAMN00006538	SNP array	Probe signal intensity	Pass
essv5595171	7	SAMN00006583	SNP array	Probe signal intensity	Pass
essv5703069	7	SAMN00006589	SNP array	Probe signal intensity	Pass
essv6588666	7	SAMN00006598	SNP array	Probe signal intensity	Pass
essv5511686	7	SAMN00006602	SNP array	Probe signal intensity	Pass
essv6503015	7	SAMN00009117	SNP array	Probe signal intensity	Pass
essv6165713	7	SAMN00009119	SNP array	Probe signal intensity	Pass
essv5599294	7	SAMN00009122	SNP array	Probe signal intensity	Pass
essv6268317	7	SAMN00009126	SNP array	Probe signal intensity	Pass
essv6021986	7	SAMN00009128	SNP array	Probe signal intensity	Pass
essv5697453	7	SAMN00009145	SNP array	Probe signal intensity	Pass
essv6360240	7	SAMN00009172	SNP array	Probe signal intensity	Pass
essv6072230	7	SAMN00009175	SNP array	Probe signal intensity	Pass
essv6379198	7	SAMN00009177	SNP array	Probe signal intensity	Pass
essv6378134	7	SAMN00009187	SNP array	Probe signal intensity	Pass
essv5635577	7	SAMN00009192	SNP array	Probe signal intensity	Pass

dbVar

Database of genomic structural variation

esv2663054

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