A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6827879



Internal ID9881887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:45381555..45382016hg38UCSC Ensembl
Outerchr13:45955690..45956151hg19UCSC Ensembl
Cytoband13q14.13
Allele length
AssemblyAllele length
hg38462
hg19462
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2747343, esv2747345, esv2747342, esv2747344, esv2747346
Supporting Variants
SamplesSSM080
Known GenesTPT1-AS1
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)essv6827879
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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