A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2596137



Internal ID8659695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:6403125..6403824hg38UCSC Ensembl
Outerchr12:6512291..6512990hg19UCSC Ensembl
Outerchr12:6382552..6383251hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38637
hg19637
hg18637
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5171772
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)esv2596137
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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