A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5176495



Internal ID8268230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:69827328..69833511hg38UCSC Ensembl
Outerchr13:70401460..70407643hg19UCSC Ensembl
Outerchr13:69299461..69305644hg18UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg386184
hg196184
hg186184
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2564277
Supporting Variants
SamplesNA18507
Known GenesKLHL1
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)essv5176495
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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