A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2423311



Internal ID8486870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:3876226..3877145hg38UCSC Ensembl
Outerchr9:3876226..3877145hg19UCSC Ensembl
Outerchr9:3866226..3867145hg18UCSC Ensembl
Cytoband9p24.2
Allele length
AssemblyAllele length
hg38346
hg19346
hg18346
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5257322
SamplesNA18507
Known GenesGLIS3
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)esv2423311
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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