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dbVar

Database of genomic structural variation

esv2664983

Organism: Homo sapiens

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

Variant Calls:7
Validation:Yes
Clinical Assertions: No
Region Size:14,873

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: 212 SVs from 48 studies. See in: genome view

Remapped(Score: Perfect):115,370,554-115,385,426

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv2664983	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	115,370,554	115,385,426
esv2664983	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	114,706,251	114,721,123

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv5646535	deletion	SAMN00006561	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,714
essv5772147	deletion	SAMN00006474	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,703
essv5839231	deletion	SAMN00001619	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,363
essv5941503	deletion	SAMN00000445	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,439
essv6351724	deletion	SAMN00000510	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,141
essv6499560	deletion	SAMN00006432	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,127
essv6588843	deletion	SAMN00000516	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,091

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv5646535	Remapped	Perfect	NC_000005.10:g.115 370554_115385426de lT	GRCh38.p12	First Pass	NC_000005.10	Chr5	115,370,554	115,385,426
essv5772147	Remapped	Perfect	NC_000005.10:g.115 370554_115385426de lT	GRCh38.p12	First Pass	NC_000005.10	Chr5	115,370,554	115,385,426
essv5839231	Remapped	Perfect	NC_000005.10:g.115 370554_115385426de lT	GRCh38.p12	First Pass	NC_000005.10	Chr5	115,370,554	115,385,426
essv5941503	Remapped	Perfect	NC_000005.10:g.115 370554_115385426de lT	GRCh38.p12	First Pass	NC_000005.10	Chr5	115,370,554	115,385,426
essv6351724	Remapped	Perfect	NC_000005.10:g.115 370554_115385426de lT	GRCh38.p12	First Pass	NC_000005.10	Chr5	115,370,554	115,385,426
essv6499560	Remapped	Perfect	NC_000005.10:g.115 370554_115385426de lT	GRCh38.p12	First Pass	NC_000005.10	Chr5	115,370,554	115,385,426
essv6588843	Remapped	Perfect	NC_000005.10:g.115 370554_115385426de lT	GRCh38.p12	First Pass	NC_000005.10	Chr5	115,370,554	115,385,426
essv5646535	Submitted genomic		NC_000005.9:g.1147 06251_114721123del T	GRCh37 (hg19)		NC_000005.9	Chr5	114,706,251	114,721,123
essv5772147	Submitted genomic		NC_000005.9:g.1147 06251_114721123del T	GRCh37 (hg19)		NC_000005.9	Chr5	114,706,251	114,721,123
essv5839231	Submitted genomic		NC_000005.9:g.1147 06251_114721123del T	GRCh37 (hg19)		NC_000005.9	Chr5	114,706,251	114,721,123
essv5941503	Submitted genomic		NC_000005.9:g.1147 06251_114721123del T	GRCh37 (hg19)		NC_000005.9	Chr5	114,706,251	114,721,123
essv6351724	Submitted genomic		NC_000005.9:g.1147 06251_114721123del T	GRCh37 (hg19)		NC_000005.9	Chr5	114,706,251	114,721,123
essv6499560	Submitted genomic		NC_000005.9:g.1147 06251_114721123del T	GRCh37 (hg19)		NC_000005.9	Chr5	114,706,251	114,721,123
essv6588843	Submitted genomic		NC_000005.9:g.1147 06251_114721123del T	GRCh37 (hg19)		NC_000005.9	Chr5	114,706,251	114,721,123

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
essv5941503	7	SAMN00000445	SNP array	Probe signal intensity	Pass
essv6351724	7	SAMN00000510	SNP array	Probe signal intensity	Pass
essv6588843	7	SAMN00000516	SNP array	Probe signal intensity	Pass
essv5839231	7	SAMN00001619	SNP array	Probe signal intensity	Pass
essv6499560	7	SAMN00006432	SNP array	Probe signal intensity	Pass
essv5772147	7	SAMN00006474	SNP array	Probe signal intensity	Pass
essv5646535	7	SAMN00006561	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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