A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2532898



Internal ID8596456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:103767772..103768766hg38UCSC Ensembl
Outerchr12:104161550..104162544hg19UCSC Ensembl
Outerchr12:102685680..102686674hg18UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38403
hg19403
hg18403
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5269392
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)esv2532898
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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