esv2676626

Organism: Homo sapiens

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

Variant Calls:15
Validation:Yes
Clinical Assertions: No
Region Size:21,674

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: 581 SVs from 64 studies. See in: genome view

Remapped(Score: Perfect):67,628,336-67,650,009

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv2676626	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000018.10	Chr18	67,628,336	67,650,009
esv2676626	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000018.9	Chr18	65,295,573	65,317,246

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv5485387	deletion	SAMN00009117	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,813
essv5588638	deletion	SAMN00009146	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,904
essv5672522	deletion	SAMN00007704	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,133
essv5866242	deletion	SAMN00001194	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,133
essv5993281	deletion	SAMN00001580	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,552
essv6089580	deletion	SAMN00001577	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,401
essv6122054	deletion	SAMN00000414	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,260
essv6188407	deletion	SAMN00001582	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,248
essv6189385	deletion	SAMN00001696	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,202
essv6267809	deletion	SAMN00001101	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,545
essv6454235	deletion	SAMN00009119	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,790
essv6480821	deletion	SAMN00001685	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,589
essv6519924	deletion	SAMN00001189	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,771
essv6530097	deletion	SAMN00014312	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,381
essv6568501	deletion	SAMN00001694	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,132

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv5485387	Remapped	Perfect	NC_000018.10:g.676 28336_67650009delT GAG	GRCh38.p12	First Pass	NC_000018.10	Chr18	67,628,336	67,650,009
essv5588638	Remapped	Perfect	NC_000018.10:g.676 28336_67650009delT GAG	GRCh38.p12	First Pass	NC_000018.10	Chr18	67,628,336	67,650,009
essv5672522	Remapped	Perfect	NC_000018.10:g.676 28336_67650009delT GAG	GRCh38.p12	First Pass	NC_000018.10	Chr18	67,628,336	67,650,009
essv5866242	Remapped	Perfect	NC_000018.10:g.676 28336_67650009delT GAG	GRCh38.p12	First Pass	NC_000018.10	Chr18	67,628,336	67,650,009
essv5993281	Remapped	Perfect	NC_000018.10:g.676 28336_67650009delT GAG	GRCh38.p12	First Pass	NC_000018.10	Chr18	67,628,336	67,650,009
essv6089580	Remapped	Perfect	NC_000018.10:g.676 28336_67650009delT GAG	GRCh38.p12	First Pass	NC_000018.10	Chr18	67,628,336	67,650,009
essv6122054	Remapped	Perfect	NC_000018.10:g.676 28336_67650009delT GAG	GRCh38.p12	First Pass	NC_000018.10	Chr18	67,628,336	67,650,009
essv6188407	Remapped	Perfect	NC_000018.10:g.676 28336_67650009delT GAG	GRCh38.p12	First Pass	NC_000018.10	Chr18	67,628,336	67,650,009
essv6189385	Remapped	Perfect	NC_000018.10:g.676 28336_67650009delT GAG	GRCh38.p12	First Pass	NC_000018.10	Chr18	67,628,336	67,650,009
essv6267809	Remapped	Perfect	NC_000018.10:g.676 28336_67650009delT GAG	GRCh38.p12	First Pass	NC_000018.10	Chr18	67,628,336	67,650,009
essv6454235	Remapped	Perfect	NC_000018.10:g.676 28336_67650009delT GAG	GRCh38.p12	First Pass	NC_000018.10	Chr18	67,628,336	67,650,009
essv6480821	Remapped	Perfect	NC_000018.10:g.676 28336_67650009delT GAG	GRCh38.p12	First Pass	NC_000018.10	Chr18	67,628,336	67,650,009
essv6519924	Remapped	Perfect	NC_000018.10:g.676 28336_67650009delT GAG	GRCh38.p12	First Pass	NC_000018.10	Chr18	67,628,336	67,650,009
essv6530097	Remapped	Perfect	NC_000018.10:g.676 28336_67650009delT GAG	GRCh38.p12	First Pass	NC_000018.10	Chr18	67,628,336	67,650,009
essv6568501	Remapped	Perfect	NC_000018.10:g.676 28336_67650009delT GAG	GRCh38.p12	First Pass	NC_000018.10	Chr18	67,628,336	67,650,009
essv5485387	Submitted genomic		NC_000018.9:g.6529 5573_65317246delTG AG	GRCh37 (hg19)		NC_000018.9	Chr18	65,295,573	65,317,246
essv5588638	Submitted genomic		NC_000018.9:g.6529 5573_65317246delTG AG	GRCh37 (hg19)		NC_000018.9	Chr18	65,295,573	65,317,246
essv5672522	Submitted genomic		NC_000018.9:g.6529 5573_65317246delTG AG	GRCh37 (hg19)		NC_000018.9	Chr18	65,295,573	65,317,246
essv5866242	Submitted genomic		NC_000018.9:g.6529 5573_65317246delTG AG	GRCh37 (hg19)		NC_000018.9	Chr18	65,295,573	65,317,246
essv5993281	Submitted genomic		NC_000018.9:g.6529 5573_65317246delTG AG	GRCh37 (hg19)		NC_000018.9	Chr18	65,295,573	65,317,246
essv6089580	Submitted genomic		NC_000018.9:g.6529 5573_65317246delTG AG	GRCh37 (hg19)		NC_000018.9	Chr18	65,295,573	65,317,246
essv6122054	Submitted genomic		NC_000018.9:g.6529 5573_65317246delTG AG	GRCh37 (hg19)		NC_000018.9	Chr18	65,295,573	65,317,246
essv6188407	Submitted genomic		NC_000018.9:g.6529 5573_65317246delTG AG	GRCh37 (hg19)		NC_000018.9	Chr18	65,295,573	65,317,246
essv6189385	Submitted genomic		NC_000018.9:g.6529 5573_65317246delTG AG	GRCh37 (hg19)		NC_000018.9	Chr18	65,295,573	65,317,246
essv6267809	Submitted genomic		NC_000018.9:g.6529 5573_65317246delTG AG	GRCh37 (hg19)		NC_000018.9	Chr18	65,295,573	65,317,246
essv6454235	Submitted genomic		NC_000018.9:g.6529 5573_65317246delTG AG	GRCh37 (hg19)		NC_000018.9	Chr18	65,295,573	65,317,246
essv6480821	Submitted genomic		NC_000018.9:g.6529 5573_65317246delTG AG	GRCh37 (hg19)		NC_000018.9	Chr18	65,295,573	65,317,246
essv6519924	Submitted genomic		NC_000018.9:g.6529 5573_65317246delTG AG	GRCh37 (hg19)		NC_000018.9	Chr18	65,295,573	65,317,246
essv6530097	Submitted genomic		NC_000018.9:g.6529 5573_65317246delTG AG	GRCh37 (hg19)		NC_000018.9	Chr18	65,295,573	65,317,246
essv6568501	Submitted genomic		NC_000018.9:g.6529 5573_65317246delTG AG	GRCh37 (hg19)		NC_000018.9	Chr18	65,295,573	65,317,246

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
essv6122054	7	SAMN00000414	SNP array	Probe signal intensity	Pass
essv6267809	7	SAMN00001101	SNP array	Probe signal intensity	Pass
essv6519924	7	SAMN00001189	SNP array	Probe signal intensity	Pass
essv5866242	7	SAMN00001194	SNP array	Probe signal intensity	Pass
essv6089580	7	SAMN00001577	SNP array	Probe signal intensity	Pass
essv5993281	7	SAMN00001580	SNP array	Probe signal intensity	Pass
essv6188407	7	SAMN00001582	SNP array	Probe signal intensity	Pass
essv6480821	7	SAMN00001685	SNP array	Probe signal intensity	Pass
essv6568501	7	SAMN00001694	SNP array	Probe signal intensity	Pass
essv6189385	7	SAMN00001696	SNP array	Probe signal intensity	Pass
essv5672522	7	SAMN00007704	SNP array	Probe signal intensity	Pass
essv5485387	7	SAMN00009117	SNP array	Probe signal intensity	Pass
essv6454235	7	SAMN00009119	SNP array	Probe signal intensity	Pass
essv5588638	7	SAMN00009146	SNP array	Probe signal intensity	Pass
essv6530097	7	SAMN00014312	SNP array	Probe signal intensity	Pass

dbVar

Database of genomic structural variation

esv2676626

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