A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6855162



Internal ID9906443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:31267222..31352268hg38UCSC Ensembl
Outerchr6:31234999..31320045hg19UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg3885047
hg1985047
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2731820, esv2731814, esv2731815, esv2731812, esv2731817
Supporting Variants
SamplesSSM087
Known GenesHLA-C
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)essv6855162
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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