A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2631763



Internal ID8348635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:16297840..16299343hg38UCSC Ensembl
Outerchr11:16319386..16320889hg19UCSC Ensembl
Outerchr11:16275962..16277465hg18UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg381504
hg191504
hg181504
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5165198
SamplesNA18507
Known GenesSOX6
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)esv2631763
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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