A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731116



Internal ID9965433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:173608253..173609256hg38UCSC Ensembl
Outerchr5:173035256..173036259hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg381004
hg191004
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6700918
SamplesSSM039
Known GenesBOD1
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)esv2731116
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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