A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6759798



Internal ID10002141
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:21964797..21965592hg38UCSC Ensembl
Outerchr6:21965028..21965823hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg38796
hg19796
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2731678
Supporting Variants
SamplesSSM008
Known GenesCASC15
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)essv6759798
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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