A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2472473



Internal ID8536031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:241694618..241695299hg38UCSC Ensembl
Outerchr2:242634033..242634714hg19UCSC Ensembl
Outerchr2:242282706..242283387hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38504
hg19504
hg18504
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5356902
SamplesNA18507
Known Genes
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)esv2472473
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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