A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6951836



Internal ID10059121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:32312611..32319227hg38UCSC Ensembl
Outerchr6:32280388..32287004hg19UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg386617
hg196617
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2731826
Supporting Variants
SamplesSSM025
Known GenesC6orf10
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)essv6951836
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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