A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2467932



Internal ID8531490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:17249350..17250242hg38UCSC Ensembl
Outerchr6:17249581..17250473hg19UCSC Ensembl
Outerchr6:17357560..17358452hg18UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg38394
hg19394
hg18394
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5215274
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)esv2467932
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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