A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2646179



Internal ID8709737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:114252955..114253543hg38UCSC Ensembl
Outerchr10:116012714..116013302hg19UCSC Ensembl
Outerchr10:116002704..116003292hg18UCSC Ensembl
Cytoband10q25.3
Allele length
AssemblyAllele length
hg38565
hg19565
hg18565
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5196052
SamplesNA18507
Known GenesVWA2
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)esv2646179
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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