A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5215609



Internal ID8307344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:110906239..110907760hg38UCSC Ensembl
Outerchr13:111558586..111560107hg19UCSC Ensembl
Outerchr13:110356587..110358108hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg381522
hg191522
hg181522
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2504656
Supporting Variants
SamplesNA18507
Known GenesANKRD10
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)essv5215609
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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