A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6695781



Internal ID10109336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:110313536..110313813hg38UCSC Ensembl
Outerchr13:110965883..110966160hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38278
hg19278
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2748004
Supporting Variants
SamplesSSM037
Known GenesCOL4A2
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)essv6695781
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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