A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6860777



Internal ID9912803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:31246405..31321806hg38UCSC Ensembl
Outerchr6:31214182..31289583hg19UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg3875402
hg1975402
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2731814, esv2731815, esv2731812, esv2731817
Supporting Variants
SamplesSSM088
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)essv6860777
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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