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dbVar

Database of genomic structural variation

esv3850889

Organism: Homo sapiens

Study:estd219 (1000 Genomes Consortium Phase 3 Integrated SV)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh37

Variant Calls:6
Validation:Not tested
Clinical Assertions: No
Region Size:70,823

Publication(s):1000 Genomes Consortium Phase 3 Integrated SV

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: 591 SVs from 79 studies. See in: genome view

Remapped(Score: Perfect):111,177,896-111,248,890

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3850889	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000007.14	Chr7	111,177,992 (-96, +0)	111,248,814 (-0, +76)
esv3850889	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000007.13	Chr7	110,818,048 (-96, +0)	110,888,870 (-0, +76)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv20838291	deletion	HG01260	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,448
essv20838292	deletion	HG01372	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,363
essv20838293	deletion	HG01491	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,598
essv20838294	deletion	HG02938	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,461
essv20838295	deletion	NA11995	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,073
essv20838296	deletion	NA12286	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,691

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv20838291	Remapped	Perfect	NC_000007.14:g.(11 1177896_111177992) _(111248814_111248 890)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	111,177,992 (-96, +0)	111,248,814 (-0, +76)
essv20838292	Remapped	Perfect	NC_000007.14:g.(11 1177896_111177992) _(111248814_111248 890)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	111,177,992 (-96, +0)	111,248,814 (-0, +76)
essv20838293	Remapped	Perfect	NC_000007.14:g.(11 1177896_111177992) _(111248814_111248 890)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	111,177,992 (-96, +0)	111,248,814 (-0, +76)
essv20838294	Remapped	Perfect	NC_000007.14:g.(11 1177896_111177992) _(111248814_111248 890)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	111,177,992 (-96, +0)	111,248,814 (-0, +76)
essv20838295	Remapped	Perfect	NC_000007.14:g.(11 1177896_111177992) _(111248814_111248 890)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	111,177,992 (-96, +0)	111,248,814 (-0, +76)
essv20838296	Remapped	Perfect	NC_000007.14:g.(11 1177896_111177992) _(111248814_111248 890)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	111,177,992 (-96, +0)	111,248,814 (-0, +76)
essv20838291	Submitted genomic		NC_000007.13:g.(11 0817952_110818048) _(110888870_110888 946)del	GRCh37 (hg19)		NC_000007.13	Chr7	110,818,048 (-96, +0)	110,888,870 (-0, +76)
essv20838292	Submitted genomic		NC_000007.13:g.(11 0817952_110818048) _(110888870_110888 946)del	GRCh37 (hg19)		NC_000007.13	Chr7	110,818,048 (-96, +0)	110,888,870 (-0, +76)
essv20838293	Submitted genomic		NC_000007.13:g.(11 0817952_110818048) _(110888870_110888 946)del	GRCh37 (hg19)		NC_000007.13	Chr7	110,818,048 (-96, +0)	110,888,870 (-0, +76)
essv20838294	Submitted genomic		NC_000007.13:g.(11 0817952_110818048) _(110888870_110888 946)del	GRCh37 (hg19)		NC_000007.13	Chr7	110,818,048 (-96, +0)	110,888,870 (-0, +76)
essv20838295	Submitted genomic		NC_000007.13:g.(11 0817952_110818048) _(110888870_110888 946)del	GRCh37 (hg19)		NC_000007.13	Chr7	110,818,048 (-96, +0)	110,888,870 (-0, +76)
essv20838296	Submitted genomic		NC_000007.13:g.(11 0817952_110818048) _(110888870_110888 946)del	GRCh37 (hg19)		NC_000007.13	Chr7	110,818,048 (-96, +0)	110,888,870 (-0, +76)

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype and/or allele frequency data can be found on dbVar's FTP site.

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