A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2735686



Internal ID10319322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:157439399..157439867hg38UCSC Ensembl
Outerchr7:157232093..157232561hg19UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg38469
hg19469
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1145e201
Supporting Variantsessv6890579, essv6923478, essv6749047, essv6919309, essv6841641, essv6927194, essv6969835, essv6802889, essv6694650, essv6767858
SamplesSSM064, SSM097, SSM073, SSM028, SSM084, SSM018, SSM017, SSM019, SSM037, SSM056
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)esv2735686
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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