A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2735676



Internal ID9970007
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:157369554..157370157hg38UCSC Ensembl
Outerchr7:157162248..157162851hg19UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg38604
hg19604
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6870115, essv6687614, essv6891410
SamplesSSM090, SSM035, SSM012
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)esv2735676
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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