A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2607263



Internal ID8324135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:101163712..101164439hg38UCSC Ensembl
Outerchr4:102084869..102085596hg19UCSC Ensembl
Outerchr4:102303892..102304619hg18UCSC Ensembl
Cytoband4q23
Allele length
AssemblyAllele length
hg38506
hg19506
hg18506
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5300852
SamplesNA18507
Known GenesPPP3CA
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)esv2607263
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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