A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6708367



Internal ID9775824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:29805215..29899201hg38UCSC Ensembl
Outerchr6:29772992..29866978hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg3893987
hg1993987
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2731769, esv2731767, esv2731775, esv2731772
Supporting Variants
SamplesSSM041
Known GenesHLA-G, HLA-H
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)essv6708367
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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