A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734882



Internal ID10318518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:99433827..99434082hg38UCSC Ensembl
Outerchr7:99031450..99031705hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38256
hg19256
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6975351, essv6915337
SamplesSSM029, SSM016
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)esv2734882
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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