A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6915337



Internal ID10026380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:99433859..99434064hg38UCSC Ensembl
Outerchr7:99031482..99031687hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38206
hg19206
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2734882
Supporting Variants
SamplesSSM016
Known GenesATP5J2-PTCD1, PTCD1
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)essv6915337
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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