A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6884158



Internal ID9932361
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:29791505..29941572hg38UCSC Ensembl
Outerchr6:29759282..29909349hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg38150068
hg19150068
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2731769, esv2731767, esv2731772
Supporting Variants
SamplesSSM095
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)essv6884158
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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