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dbVar

Database of genomic structural variation

esv2756914

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:282,540

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: 1043 SVs from 91 studies. See in: genome view

Remapped(Score: Perfect):36,060,892-36,343,431

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
esv2756914	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	36,060,892	36,343,431
esv2756914	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000002.11	Chr2	36,288,035	36,570,574
esv2756914	Submitted genomic		NCBI35 (hg17)	Primary Assembly		NC_000002.9	Chr2	36,199,686	36,482,225

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv25112	copy number loss	NA12814	SNP array	SNP genotyping analysis	131
essv5830	copy number loss	NA18524	SNP array	SNP genotyping analysis	87

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
essv25112	Remapped	Perfect	NC_000002.12:g.(36 060892_36125971)_( 36338307_36343431) del	GRCh38.p12	First Pass	NC_000002.12	Chr2	36,060,892	36,125,971	36,338,307	36,343,431
essv5830	Remapped	Perfect	NC_000002.12:g.(36 148273_36148273)_( 36193425_36225319) del	GRCh38.p12	First Pass	NC_000002.12	Chr2	36,148,273	36,148,273	36,193,425	36,225,319
essv25112	Remapped	Perfect	NC_000002.11:g.(36 288035_36353114)_( 36565450_36570574) del	GRCh37.p13	First Pass	NC_000002.11	Chr2	36,288,035	36,353,114	36,565,450	36,570,574
essv5830	Remapped	Perfect	NC_000002.11:g.(36 375416_36375416)_( 36420568_36452462) del	GRCh37.p13	First Pass	NC_000002.11	Chr2	36,375,416	36,375,416	36,420,568	36,452,462
essv25112	Submitted genomic		NC_000002.9:g.(361 99686_36264765)_(3 6477101_36482225)d el	NCBI35 (hg17)		NC_000002.9	Chr2	36,199,686	36,264,765	36,477,101	36,482,225
essv5830	Submitted genomic		NC_000002.9:g.(362 87067_36287067)_(3 6332219_36364113)d el	NCBI35 (hg17)		NC_000002.9	Chr2	36,287,067	36,287,067	36,332,219	36,364,113

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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