A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5272935



Internal ID8364670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:78696918..78697926hg38UCSC Ensembl
Outerchr13:79271053..79272061hg19UCSC Ensembl
Outerchr13:78169054..78170062hg18UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg38272
hg19272
hg18272
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2504892
Supporting Variants
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)essv5272935
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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