A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2735592



Internal ID10319228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:155886171..155886643hg38UCSC Ensembl
Outerchr7:155678865..155679337hg19UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg38473
hg19473
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6919301, essv6893912, essv6897067, essv6712238, essv6975515
SamplesSSM042, SSM029, SSM017, SSM099, SSM098
Known Genes
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)esv2735592
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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