A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6891410



Internal ID9666395
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:157369652..157369874hg38UCSC Ensembl
Outerchr7:157162346..157162568hg19UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg38223
hg19223
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2735676, esv2735675
Supporting Variants
SamplesSSM012
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)essv6891410
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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