A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6698881



Internal ID10111398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:71553006..71553327hg38UCSC Ensembl
Outerchr13:72127138..72127459hg19UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg38322
hg19322
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2747606, esv2747604, esv2747603
Supporting Variants
SamplesSSM038
Known GenesDACH1
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)essv6698881
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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