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dbVar

Database of genomic structural variation

esv2757127

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:42,441

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: 339 SVs from 53 studies. See in: genome view

Remapped(Score: Perfect):104,603,973-104,646,413

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
esv2757127	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	104,603,973	104,646,413
esv2757127	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000005.9	Chr5	103,939,674	103,982,114
esv2757127	Submitted genomic		NCBI35 (hg17)	Primary Assembly		NC_000005.8	Chr5	103,967,573	104,010,013

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv12432	copy number loss	NA19152	SNP array	SNP genotyping analysis	86
essv9482	copy number loss	NA19154	SNP array	SNP genotyping analysis	139

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
essv12432	Remapped	Perfect	NC_000005.10:g.(10 4603973_104625595) _(104638231_104643 418)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	104,603,973	104,625,595	104,638,231	104,643,418
essv9482	Remapped	Perfect	NC_000005.10:g.(10 4625595_104625895) _(104638231_104646 413)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	104,625,595	104,625,895	104,638,231	104,646,413
essv12432	Remapped	Perfect	NC_000005.9:g.(103 939674_103961296)_ (103973932_1039791 19)del	GRCh37.p13	First Pass	NC_000005.9	Chr5	103,939,674	103,961,296	103,973,932	103,979,119
essv9482	Remapped	Perfect	NC_000005.9:g.(103 961296_103961596)_ (103973932_1039821 14)del	GRCh37.p13	First Pass	NC_000005.9	Chr5	103,961,296	103,961,596	103,973,932	103,982,114
essv12432	Submitted genomic		NC_000005.8:g.(103 967573_103989195)_ (104001831_1040070 18)del	NCBI35 (hg17)		NC_000005.8	Chr5	103,967,573	103,989,195	104,001,831	104,007,018
essv9482	Submitted genomic		NC_000005.8:g.(103 989195_103989495)_ (104001831_1040100 13)del	NCBI35 (hg17)		NC_000005.8	Chr5	103,989,195	103,989,495	104,001,831	104,010,013

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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