A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2472921



Internal ID8536480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:112713736..112714584hg38UCSC Ensembl
Outerchr13:113368050..113368898hg19UCSC Ensembl
Outerchr13:112416051..112416899hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38487
hg19487
hg18487
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5287988
SamplesNA18507
Known GenesATP11A
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)esv2472921
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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