A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714033



Internal ID9948317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:17032098..17032649hg38UCSC Ensembl
Outerchr16:17125955..17126506hg19UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg38552
hg19552
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6758557, essv6828190, essv6741500, essv6772563, essv6960108, essv6905367, essv6738233, essv6752914, essv6761329, essv6851988, essv6857975
SamplesSSM059, SSM065, SSM087, SSM013, SSM050, SSM057, SSM061, SSM026, SSM086, SSM080, SSM052
Known Genes
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)esv2714033
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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