A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6896756



Internal ID9943876
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:31354256..31382124hg38UCSC Ensembl
Outerchr6:31322033..31349901hg19UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg3827869
hg1927869
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2731814, esv2731812, esv2731821
Supporting Variants
SamplesSSM099
Known GenesHLA-B, MIR6891
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)essv6896756
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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