A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6727070



Internal ID9791159
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:31253285..31345714hg38UCSC Ensembl
Outerchr6:31221062..31313491hg19UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg3892430
hg1992430
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2731814, esv2731815, esv2731812, esv2731817
Supporting Variants
SamplesSSM046
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)essv6727070
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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