A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6811315



Internal ID9867637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:33086265..33129153hg38UCSC Ensembl
Outerchr6:33054042..33096930hg19UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg3842889
hg1942889
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2731880
Supporting Variants
SamplesSSM076
Known GenesHLA-DPB1, HLA-DPB2
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)essv6811315
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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