A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2525500



Internal ID8589058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:186405353..186406389hg38UCSC Ensembl
Outerchr3:186123142..186124178hg19UCSC Ensembl
Outerchr3:187605836..187606872hg18UCSC Ensembl
Cytoband3q27.3
Allele length
AssemblyAllele length
hg38279
hg19279
hg18279
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5228969
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)esv2525500
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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