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dbVar

Database of genomic structural variation

esv2663916

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:15,113

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: 492 SVs from 72 studies. See in: genome view

Remapped(Score: Perfect):841,389-856,501

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv2663916	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	841,389	856,501
esv2663916	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	776,769	791,881

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv5463605	deletion	SAMN00009248	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,270
essv5826571	deletion	SAMN00014329	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,635
essv6020202	deletion	SAMN00014350	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,216
essv6094713	deletion	SAMN00014327	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,651
essv6143600	deletion	SAMN00014314	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,733
essv6257481	deletion	SAMN00014320	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,333
essv6345413	deletion	SAMN00014326	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,595

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv5463605	Remapped	Perfect	NC_000001.11:g.841 389_856501delTTGA	GRCh38.p12	First Pass	NC_000001.11	Chr1	841,389	856,501
essv5826571	Remapped	Perfect	NC_000001.11:g.841 389_856501delTTGA	GRCh38.p12	First Pass	NC_000001.11	Chr1	841,389	856,501
essv6020202	Remapped	Perfect	NC_000001.11:g.841 389_856501delTTGA	GRCh38.p12	First Pass	NC_000001.11	Chr1	841,389	856,501
essv6094713	Remapped	Perfect	NC_000001.11:g.841 389_856501delTTGA	GRCh38.p12	First Pass	NC_000001.11	Chr1	841,389	856,501
essv6143600	Remapped	Perfect	NC_000001.11:g.841 389_856501delTTGA	GRCh38.p12	First Pass	NC_000001.11	Chr1	841,389	856,501
essv6257481	Remapped	Perfect	NC_000001.11:g.841 389_856501delTTGA	GRCh38.p12	First Pass	NC_000001.11	Chr1	841,389	856,501
essv6345413	Remapped	Perfect	NC_000001.11:g.841 389_856501delTTGA	GRCh38.p12	First Pass	NC_000001.11	Chr1	841,389	856,501
essv5463605	Submitted genomic		NC_000001.10:g.776 769_791881delTTGA	GRCh37 (hg19)		NC_000001.10	Chr1	776,769	791,881
essv5826571	Submitted genomic		NC_000001.10:g.776 769_791881delTTGA	GRCh37 (hg19)		NC_000001.10	Chr1	776,769	791,881
essv6020202	Submitted genomic		NC_000001.10:g.776 769_791881delTTGA	GRCh37 (hg19)		NC_000001.10	Chr1	776,769	791,881
essv6094713	Submitted genomic		NC_000001.10:g.776 769_791881delTTGA	GRCh37 (hg19)		NC_000001.10	Chr1	776,769	791,881
essv6143600	Submitted genomic		NC_000001.10:g.776 769_791881delTTGA	GRCh37 (hg19)		NC_000001.10	Chr1	776,769	791,881
essv6257481	Submitted genomic		NC_000001.10:g.776 769_791881delTTGA	GRCh37 (hg19)		NC_000001.10	Chr1	776,769	791,881
essv6345413	Submitted genomic		NC_000001.10:g.776 769_791881delTTGA	GRCh37 (hg19)		NC_000001.10	Chr1	776,769	791,881

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
essv5463605	7	SAMN00009248	SNP array	Probe signal intensity	Pass
essv6143600	7	SAMN00014314	SNP array	Probe signal intensity	Pass
essv6257481	7	SAMN00014320	SNP array	Probe signal intensity	Pass
essv6345413	7	SAMN00014326	SNP array	Probe signal intensity	Pass
essv6094713	7	SAMN00014327	SNP array	Probe signal intensity	Pass
essv5826571	7	SAMN00014329	SNP array	Probe signal intensity	Pass
essv6020202	7	SAMN00014350	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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