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dbVar

Database of genomic structural variation

esv2661457

Organism: Homo sapiens

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

Variant Calls:8
Validation:Yes
Clinical Assertions: No
Region Size:16,340

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: 336 SVs from 62 studies. See in: genome view

Remapped(Score: Perfect):102,711,119-102,727,458

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv2661457	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000007.14	Chr7	102,711,119	102,727,458
esv2661457	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000007.13	Chr7	102,351,566	102,367,905

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv5404152	deletion	SAMN00000568	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,629
essv5453886	deletion	SAMN00007743	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,615
essv5963441	deletion	SAMN00001168	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,626
essv6052861	deletion	SAMN00009136	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,371
essv6296410	deletion	SAMN00007734	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,582
essv6307326	deletion	SAMN00001183	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,354
essv6370262	deletion	SAMN00001120	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,364
essv6451937	deletion	SAMN00001230	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	950

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv5404152	Remapped	Perfect	NC_000007.14:g.102 711119_102727458de lT	GRCh38.p12	First Pass	NC_000007.14	Chr7	102,711,119	102,727,458
essv5453886	Remapped	Perfect	NC_000007.14:g.102 711119_102727458de lT	GRCh38.p12	First Pass	NC_000007.14	Chr7	102,711,119	102,727,458
essv5963441	Remapped	Perfect	NC_000007.14:g.102 711119_102727458de lT	GRCh38.p12	First Pass	NC_000007.14	Chr7	102,711,119	102,727,458
essv6052861	Remapped	Perfect	NC_000007.14:g.102 711119_102727458de lT	GRCh38.p12	First Pass	NC_000007.14	Chr7	102,711,119	102,727,458
essv6296410	Remapped	Perfect	NC_000007.14:g.102 711119_102727458de lT	GRCh38.p12	First Pass	NC_000007.14	Chr7	102,711,119	102,727,458
essv6307326	Remapped	Perfect	NC_000007.14:g.102 711119_102727458de lT	GRCh38.p12	First Pass	NC_000007.14	Chr7	102,711,119	102,727,458
essv6370262	Remapped	Perfect	NC_000007.14:g.102 711119_102727458de lT	GRCh38.p12	First Pass	NC_000007.14	Chr7	102,711,119	102,727,458
essv6451937	Remapped	Perfect	NC_000007.14:g.102 711119_102727458de lT	GRCh38.p12	First Pass	NC_000007.14	Chr7	102,711,119	102,727,458
essv5404152	Submitted genomic		NC_000007.13:g.102 351566_102367905de lT	GRCh37 (hg19)		NC_000007.13	Chr7	102,351,566	102,367,905
essv5453886	Submitted genomic		NC_000007.13:g.102 351566_102367905de lT	GRCh37 (hg19)		NC_000007.13	Chr7	102,351,566	102,367,905
essv5963441	Submitted genomic		NC_000007.13:g.102 351566_102367905de lT	GRCh37 (hg19)		NC_000007.13	Chr7	102,351,566	102,367,905
essv6052861	Submitted genomic		NC_000007.13:g.102 351566_102367905de lT	GRCh37 (hg19)		NC_000007.13	Chr7	102,351,566	102,367,905
essv6296410	Submitted genomic		NC_000007.13:g.102 351566_102367905de lT	GRCh37 (hg19)		NC_000007.13	Chr7	102,351,566	102,367,905
essv6307326	Submitted genomic		NC_000007.13:g.102 351566_102367905de lT	GRCh37 (hg19)		NC_000007.13	Chr7	102,351,566	102,367,905
essv6370262	Submitted genomic		NC_000007.13:g.102 351566_102367905de lT	GRCh37 (hg19)		NC_000007.13	Chr7	102,351,566	102,367,905
essv6451937	Submitted genomic		NC_000007.13:g.102 351566_102367905de lT	GRCh37 (hg19)		NC_000007.13	Chr7	102,351,566	102,367,905

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
essv5404152	9	SAMN00000568	Oligo aCGH	Probe signal intensity	Pass
essv6370262	9	SAMN00001120	Oligo aCGH	Probe signal intensity	Pass
essv5963441	9	SAMN00001168	Oligo aCGH	Probe signal intensity	Pass
essv6307326	9	SAMN00001183	Oligo aCGH	Probe signal intensity	Pass
essv6451937	9	SAMN00001230	Oligo aCGH	Probe signal intensity	Pass
essv6296410	9	SAMN00007734	Oligo aCGH	Probe signal intensity	Pass
essv5453886	9	SAMN00007743	Oligo aCGH	Probe signal intensity	Pass
essv6052861	9	SAMN00009136	Oligo aCGH	Probe signal intensity	Pass
essv5404152	7	SAMN00000568	SNP array	Probe signal intensity	Pass
essv6370262	7	SAMN00001120	SNP array	Probe signal intensity	Pass
essv5963441	7	SAMN00001168	SNP array	Probe signal intensity	Pass
essv6307326	7	SAMN00001183	SNP array	Probe signal intensity	Pass
essv6451937	7	SAMN00001230	SNP array	Probe signal intensity	Pass
essv6296410	7	SAMN00007734	SNP array	Probe signal intensity	Pass
essv5453886	7	SAMN00007743	SNP array	Probe signal intensity	Pass
essv6052861	7	SAMN00009136	SNP array	Probe signal intensity	Pass

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant

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