A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2622685



Internal ID8339557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:54726798..54728280hg38UCSC Ensembl
Outerchr2:54953935..54955417hg19UCSC Ensembl
Outerchr2:54807439..54808921hg18UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg381483
hg191483
hg181483
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5309002
SamplesNA18507
Known GenesEML6
MethodSequencing
AnalysisLarger insertions and deletions are found by looking at variation in mate pair distances in the 2x50 mate pair libraries. These data are included in separate files for each of three coverage values: 2.2x, 4.0x, 5.6x, and 8.4x
PlatformNot specified
CommentsoriginalFile=Yoruban_large_indels_8.4x.gff
ReferenceMcKernan_et_al_2009
Pubmed ID19546169
Accession Number(s)esv2622685
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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