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dbVar

Database of genomic structural variation

esv2757053

Organism: Homo sapiens

Study:estd1 (Redon et al. 2006)
Variant Type:copy number variation
Method Type:SNP array
Submitted on:NCBI35 (hg17)

Variant Calls:2
Validation:Not tested
Clinical Assertions: No
Region Size:263,626

Publication(s):Redon et al. 2006

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: 948 SVs from 75 studies. See in: genome view

Remapped(Score: Perfect):34,147,619-34,411,244

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
esv2757053	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	34,147,619	34,411,244
esv2757053	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000004.11	Chr4	34,149,241	34,412,866
esv2757053	Submitted genomic		NCBI35 (hg17)	Primary Assembly		NC_000004.9	Chr4	33,971,807	34,235,432

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv9003	copy number gain	NA19194	SNP array	SNP genotyping analysis	126
essv11408	copy number gain	NA19192	SNP array	SNP genotyping analysis	98

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
essv9003	Remapped	Perfect	NC_000004.12:g.(34 147619_34339584)_( 34402401_34411244) dup	GRCh38.p12	First Pass	NC_000004.12	Chr4	34,147,619	34,339,584	34,402,401	34,411,244
essv11408	Remapped	Perfect	NC_000004.12:g.(34 334448_34334448)_( 34402401_34411244) dup	GRCh38.p12	First Pass	NC_000004.12	Chr4	34,334,448	34,334,448	34,402,401	34,411,244
essv9003	Remapped	Perfect	NC_000004.11:g.(34 149241_34341206)_( 34404023_34412866) dup	GRCh37.p13	First Pass	NC_000004.11	Chr4	34,149,241	34,341,206	34,404,023	34,412,866
essv11408	Remapped	Perfect	NC_000004.11:g.(34 336070_34336070)_( 34404023_34412866) dup	GRCh37.p13	First Pass	NC_000004.11	Chr4	34,336,070	34,336,070	34,404,023	34,412,866
essv9003	Submitted genomic		NC_000004.9:g.(339 71807_34163772)_(3 4226589_34235432)d up	NCBI35 (hg17)		NC_000004.9	Chr4	33,971,807	34,163,772	34,226,589	34,235,432
essv11408	Submitted genomic		NC_000004.9:g.(341 58636_34158636)_(3 4226589_34235432)d up	NCBI35 (hg17)		NC_000004.9	Chr4	34,158,636	34,158,636	34,226,589	34,235,432

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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