A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6703243



Internal ID9649000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:29791750..29941754hg38UCSC Ensembl
Outerchr6:29759527..29909531hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg38150005
hg19150005
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2731769, esv2731767, esv2731772
Supporting Variants
SamplesSSM006
Known GenesHCG4, HCG4B, HLA-G, HLA-H, LOC554223
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)essv6703243
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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