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dbVar

Database of genomic structural variation

esv2757270

Organism: Homo sapiens

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

Variant Calls:4
Validation:Not tested
Clinical Assertions: No
Region Size:150,101

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: 717 SVs from 71 studies. See in: genome view

Remapped(Score: Perfect):46,503,558-46,653,658

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
esv2757270	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000008.11	Chr8	46,503,558	46,653,658
esv2757270	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000008.10	Chr8	47,415,180	47,565,280
esv2757270	Submitted genomic		NCBI35 (hg17)	Primary Assembly		NC_000008.9	Chr8	47,534,345	47,684,445

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv25128	copy number gain	NA10856	SNP array	SNP genotyping analysis	116
essv23169	copy number gain	NA10831	SNP array	SNP genotyping analysis	132
essv21602	copy number gain	NA12155	SNP array	SNP genotyping analysis	79
essv25065	copy number gain	NA12892	SNP array	SNP genotyping analysis	76

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
essv25128	Remapped	Perfect	NC_000008.11:g.(46 503558_46517387)_( 46587693_46593878) dup	GRCh38.p12	First Pass	NC_000008.11	Chr8	46,503,558	46,517,387	46,587,693	46,593,878
essv23169	Remapped	Perfect	NC_000008.11:g.(46 578699_46578699)_( 46624924_46641748) dup	GRCh38.p12	First Pass	NC_000008.11	Chr8	46,578,699	46,578,699	46,624,924	46,641,748
essv21602	Remapped	Perfect	NC_000008.11:g.(46 587693_46618760)_( 46637164_46637164) dup	GRCh38.p12	First Pass	NC_000008.11	Chr8	46,587,693	46,618,760	46,637,164	46,637,164
essv25065	Remapped	Perfect	NC_000008.11:g.(46 618760_46618760)_( 46653658_46653658) dup	GRCh38.p12	First Pass	NC_000008.11	Chr8	46,618,760	46,618,760	46,653,658	46,653,658
essv25128	Remapped	Perfect	NC_000008.10:g.(47 415180_47429009)_( 47499315_47505500) dup	GRCh37.p13	First Pass	NC_000008.10	Chr8	47,415,180	47,429,009	47,499,315	47,505,500
essv23169	Remapped	Perfect	NC_000008.10:g.(47 490321_47490321)_( 47536546_47553370) dup	GRCh37.p13	First Pass	NC_000008.10	Chr8	47,490,321	47,490,321	47,536,546	47,553,370
essv21602	Remapped	Perfect	NC_000008.10:g.(47 499315_47530382)_( 47548786_47548786) dup	GRCh37.p13	First Pass	NC_000008.10	Chr8	47,499,315	47,530,382	47,548,786	47,548,786
essv25065	Remapped	Perfect	NC_000008.10:g.(47 530382_47530382)_( 47565280_47565280) dup	GRCh37.p13	First Pass	NC_000008.10	Chr8	47,530,382	47,530,382	47,565,280	47,565,280
essv25128	Submitted genomic		NC_000008.9:g.(475 34345_47548174)_(4 7618480_47624665)d up	NCBI35 (hg17)		NC_000008.9	Chr8	47,534,345	47,548,174	47,618,480	47,624,665
essv23169	Submitted genomic		NC_000008.9:g.(476 09486_47609486)_(4 7655711_47672535)d up	NCBI35 (hg17)		NC_000008.9	Chr8	47,609,486	47,609,486	47,655,711	47,672,535
essv21602	Submitted genomic		NC_000008.9:g.(476 18480_47649547)_(4 7667951_47667951)d up	NCBI35 (hg17)		NC_000008.9	Chr8	47,618,480	47,649,547	47,667,951	47,667,951
essv25065	Submitted genomic		NC_000008.9:g.(476 49547_47649547)_(4 7684445_47684445)d up	NCBI35 (hg17)		NC_000008.9	Chr8	47,649,547	47,649,547	47,684,445	47,684,445

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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