A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6923416



Internal ID9686001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:138611717..138612402hg38UCSC Ensembl
Outerchr7:138296462..138297147hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg38686
hg19686
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2735218, esv2735212
Supporting Variants
SamplesSSM018
Known GenesSVOPL
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)essv6923416
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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