A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6743452



Internal ID9806900
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:157288283..157403294hg38UCSC Ensembl
Outerchr7:157080977..157195988hg19UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg38115012
hg19115012
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2735675
Supporting Variants
SamplesSSM053
Known GenesDNAJB6
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)essv6743452
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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