A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2516721



Internal ID8580280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:159229415..159230189hg38UCSC Ensembl
Outerchr3:158947204..158947978hg19UCSC Ensembl
Outerchr3:160429898..160430672hg18UCSC Ensembl
Cytoband3q25.32
Allele length
AssemblyAllele length
hg38464
hg19464
hg18464
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5211164
SamplesNA18507
Known GenesIQCJ, IQCJ-SCHIP1
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)esv2516721
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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