A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6704947



Internal ID9771247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:31267155..31352251hg38UCSC Ensembl
Outerchr6:31234932..31320028hg19UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg3885097
hg1985097
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2731820, esv2731814, esv2731815, esv2731812, esv2731817
Supporting Variants
SamplesSSM040
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)essv6704947
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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