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dbVar

Database of genomic structural variation

esv2647869

Organism: Homo sapiens

Study:estd197 (McKernan et al. 2009)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:NCBI36 (hg18)

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:31,387

Description:originalFile=Yoruban_cnv.gff
Publication(s):McKernan et al. 2009

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: 303 SVs from 52 studies. See in: genome view

Remapped(Score: Perfect):85,508,760-85,540,146

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
esv2647869	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	85,508,760	85,540,146
esv2647869	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000001.10	Chr1	85,974,443	86,005,829
esv2647869	Remapped	Good	GRCh37.p13	PATCHES	Second Pass	NW_003871055.3	Chr1\|NW_00 3871055.3	2,338,129	2,368,708
esv2647869	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000001.9	Chr1	85,747,031	85,778,417

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv5288249	copy number gain	NA18507	Sequencing	Read depth	232,775

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
essv5288249	Remapped	Perfect	NC_000001.11:g.(?_ 85508760)_(8554014 6_?)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	85,508,760	85,540,146
essv5288249	Remapped	Good	NW_003871055.3:g.( ?_2338129)_(236870 8_?)dup	GRCh37.p13	Second Pass	NW_003871055.3	Chr1\|NW_00 3871055.3	2,338,129	2,368,708
essv5288249	Remapped	Perfect	NC_000001.10:g.(?_ 85974443)_(8600582 9_?)dup	GRCh37.p13	First Pass	NC_000001.10	Chr1	85,974,443	86,005,829
essv5288249	Submitted genomic		NC_000001.9:g.(?_8 5747031)_(85778417 _?)dup	NCBI36 (hg18)		NC_000001.9	Chr1	85,747,031	85,778,417

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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