A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714934



Internal ID9949219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:87732752..87732982hg38UCSC Ensembl
Outerchr16:87766358..87766588hg19UCSC Ensembl
Cytoband16q24.2
Allele length
AssemblyAllele length
hg38231
hg19231
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6916704, essv6800876, essv6846409, essv6953881, essv6665647
SamplesSSM029, SSM085, SSM072, SSM016, SSM025
Known GenesKLHDC4
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)esv2714934
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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