A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6754536



Internal ID10163784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:32664260..32761139hg38UCSC Ensembl
Outerchr6:32632037..32728916hg19UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg3896880
hg1996880
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2731866, esv2731868, esv2731864
Supporting Variants
SamplesSSM058
Known GenesHLA-DQA2, HLA-DQB1, HLA-DQB2
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)essv6754536
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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