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dbVar

Database of genomic structural variation

esv3890305

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:9
Validation:Not tested
Clinical Assertions: No
Region Size:155,904

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: 818 SVs from 63 studies. See in: genome view

Remapped(Score: Good):145,243,822-145,401,725

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3890305	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	145,244,822 (-1000, +500)	145,400,725 (-500, +1000)
esv3890305	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	144,326,342 (-1000, +500)	144,482,243 (-500, +1000)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv25684348	deletion	HG00154	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,446
essv25684349	deletion	HG00361	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,647
essv25684350	deletion	HG01366	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,679
essv25684351	deletion	HG03511	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,980
essv25684352	deletion	NA19332	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,777
essv25684353	deletion	NA20506	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,161
essv25684354	deletion	NA20530	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,153
essv25684355	deletion	NA20533	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,922
essv25684356	deletion	NA20773	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,348

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv25684348	Remapped	Good	NC_000023.11:g.(14 5243822_145245322) _(145400225_145401 725)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	145,244,822 (-1000, +500)	145,400,725 (-500, +1000)
essv25684349	Remapped	Good	NC_000023.11:g.(14 5243822_145245322) _(145400225_145401 725)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	145,244,822 (-1000, +500)	145,400,725 (-500, +1000)
essv25684350	Remapped	Good	NC_000023.11:g.(14 5243822_145245322) _(145400225_145401 725)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	145,244,822 (-1000, +500)	145,400,725 (-500, +1000)
essv25684351	Remapped	Good	NC_000023.11:g.(14 5243822_145245322) _(145400225_145401 725)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	145,244,822 (-1000, +500)	145,400,725 (-500, +1000)
essv25684352	Remapped	Good	NC_000023.11:g.(14 5243822_145245322) _(145400225_145401 725)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	145,244,822 (-1000, +500)	145,400,725 (-500, +1000)
essv25684353	Remapped	Good	NC_000023.11:g.(14 5243822_145245322) _(145400225_145401 725)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	145,244,822 (-1000, +500)	145,400,725 (-500, +1000)
essv25684354	Remapped	Good	NC_000023.11:g.(14 5243822_145245322) _(145400225_145401 725)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	145,244,822 (-1000, +500)	145,400,725 (-500, +1000)
essv25684355	Remapped	Good	NC_000023.11:g.(14 5243822_145245322) _(145400225_145401 725)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	145,244,822 (-1000, +500)	145,400,725 (-500, +1000)
essv25684356	Remapped	Good	NC_000023.11:g.(14 5243822_145245322) _(145400225_145401 725)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	145,244,822 (-1000, +500)	145,400,725 (-500, +1000)
essv25684348	Submitted genomic		NC_000023.10:g.(14 4325342_144326842) _(144481743_144483 243)del	GRCh37 (hg19)		NC_000023.10	ChrX	144,326,342 (-1000, +500)	144,482,243 (-500, +1000)
essv25684349	Submitted genomic		NC_000023.10:g.(14 4325342_144326842) _(144481743_144483 243)del	GRCh37 (hg19)		NC_000023.10	ChrX	144,326,342 (-1000, +500)	144,482,243 (-500, +1000)
essv25684350	Submitted genomic		NC_000023.10:g.(14 4325342_144326842) _(144481743_144483 243)del	GRCh37 (hg19)		NC_000023.10	ChrX	144,326,342 (-1000, +500)	144,482,243 (-500, +1000)
essv25684351	Submitted genomic		NC_000023.10:g.(14 4325342_144326842) _(144481743_144483 243)del	GRCh37 (hg19)		NC_000023.10	ChrX	144,326,342 (-1000, +500)	144,482,243 (-500, +1000)
essv25684352	Submitted genomic		NC_000023.10:g.(14 4325342_144326842) _(144481743_144483 243)del	GRCh37 (hg19)		NC_000023.10	ChrX	144,326,342 (-1000, +500)	144,482,243 (-500, +1000)
essv25684353	Submitted genomic		NC_000023.10:g.(14 4325342_144326842) _(144481743_144483 243)del	GRCh37 (hg19)		NC_000023.10	ChrX	144,326,342 (-1000, +500)	144,482,243 (-500, +1000)
essv25684354	Submitted genomic		NC_000023.10:g.(14 4325342_144326842) _(144481743_144483 243)del	GRCh37 (hg19)		NC_000023.10	ChrX	144,326,342 (-1000, +500)	144,482,243 (-500, +1000)
essv25684355	Submitted genomic		NC_000023.10:g.(14 4325342_144326842) _(144481743_144483 243)del	GRCh37 (hg19)		NC_000023.10	ChrX	144,326,342 (-1000, +500)	144,482,243 (-500, +1000)
essv25684356	Submitted genomic		NC_000023.10:g.(14 4325342_144326842) _(144481743_144483 243)del	GRCh37 (hg19)		NC_000023.10	ChrX	144,326,342 (-1000, +500)	144,482,243 (-500, +1000)

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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