A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734474



Internal ID9968801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:56809950..56816102hg38UCSC Ensembl
Outerchr7:56877643..56883795hg19UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg386153
hg196153
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6818529
SamplesSSM078
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)esv2734474
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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