A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6762644



Internal ID9824393
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:33086358..33128912hg38UCSC Ensembl
Outerchr6:33054135..33096689hg19UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg3842555
hg1942555
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2731880
Supporting Variants
SamplesSSM062
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)essv6762644
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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