A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2735241



Internal ID9969571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:140035992..140036052hg38UCSC Ensembl
Outerchr7:139735792..139735852hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6855769
SamplesSSM087
Known GenesPARP12
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)esv2735241
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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