A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6818162



Internal ID9874332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:29893345..29948301hg38UCSC Ensembl
Outerchr6:29861122..29916078hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg3854957
hg1954957
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2731769, esv2731775
Supporting Variants
SamplesSSM078
Known GenesHCG4B, HLA-A
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)essv6818162
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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