A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6743122



Internal ID9807198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:31396979..31492102hg38UCSC Ensembl
Outerchr6:31364756..31459879hg19UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg3895124
hg1995124
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2731812, esv2731822
Supporting Variants
SamplesSSM053
Known GenesHCG26, HCP5, MICA
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)essv6743122
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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