A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715187



Internal ID9949473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:89635043..89635181hg38UCSC Ensembl
Outerchr16:89701451..89701589hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38139
hg19139
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6820379, essv6867912
SamplesSSM078, SSM089
Known GenesDPEP1
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)esv2715187
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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