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dbVar

Database of genomic structural variation

esv2752130

Organism: Homo sapiens

Study:estd55 (Pinto et al. 2007)
Variant Type:copy number variation
Method Type:SNP array
Submitted on:NCBI35 (hg17)

Variant Calls:3
Validation:Not tested
Clinical Assertions: No
Region Size:456,033

Description:Sample level SV from stringent call set
Publication(s):Pinto et al. 2007

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: 1007 SVs from 67 studies. See in: genome view

Remapped(Score: Perfect):91,030,729-91,486,761

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
esv2752130	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	91,030,729	91,486,761
esv2752130	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000006.11	Chr6	91,740,447	92,196,479
esv2752130	Submitted genomic		NCBI35 (hg17)	Primary Assembly		NC_000006.9	Chr6	91,797,168	92,253,200

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv6984154	copy number gain	BEC_789	SNP array	SNP genotyping analysis	14
essv6987510	copy number gain	BEC_789	SNP array	SNP genotyping analysis	14
essv6988763	copy number gain	BEC_789	SNP array	SNP genotyping analysis	14

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
essv6984154	Remapped	Perfect	NC_000006.12:g.(?_ 91030729)_(9112302 7_?)dup	GRCh38.p12	First Pass	NC_000006.12	Chr6	91,030,729	91,123,027
essv6987510	Remapped	Perfect	NC_000006.12:g.(?_ 91040857)_(9112302 7_?)dup	GRCh38.p12	First Pass	NC_000006.12	Chr6	91,040,857	91,123,027
essv6988763	Remapped	Perfect	NC_000006.12:g.(?_ 91040861)_(9148676 1_?)dup	GRCh38.p12	First Pass	NC_000006.12	Chr6	91,040,861	91,486,761
essv6984154	Remapped	Perfect	NC_000006.11:g.(?_ 91740447)_(9183274 5_?)dup	GRCh37.p13	First Pass	NC_000006.11	Chr6	91,740,447	91,832,745
essv6987510	Remapped	Perfect	NC_000006.11:g.(?_ 91750575)_(9183274 5_?)dup	GRCh37.p13	First Pass	NC_000006.11	Chr6	91,750,575	91,832,745
essv6988763	Remapped	Perfect	NC_000006.11:g.(?_ 91750579)_(9219647 9_?)dup	GRCh37.p13	First Pass	NC_000006.11	Chr6	91,750,579	92,196,479
essv6984154	Submitted genomic		NC_000006.9:g.(?_9 1797168)_(91889466 _?)dup	NCBI35 (hg17)		NC_000006.9	Chr6	91,797,168	91,889,466
essv6987510	Submitted genomic		NC_000006.9:g.(?_9 1807296)_(91889466 _?)dup	NCBI35 (hg17)		NC_000006.9	Chr6	91,807,296	91,889,466
essv6988763	Submitted genomic		NC_000006.9:g.(?_9 1807300)_(92253200 _?)dup	NCBI35 (hg17)		NC_000006.9	Chr6	91,807,300	92,253,200

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant

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