A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734343



Internal ID10317979
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:46326614..46327124hg38UCSC Ensembl
Outerchr7:46366212..46366722hg19UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg38511
hg19511
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6757567, essv6734526, essv6754745, essv6765172, essv6751796, essv6762780, essv6760226, essv6748926, essv6737155
SamplesSSM059, SSM050, SSM057, SSM058, SSM061, SSM062, SSM049, SSM056, SSM063
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)esv2734343
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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