A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714016



Internal ID9948300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:15573820..15574126hg38UCSC Ensembl
Outerchr16:15667677..15667983hg19UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg38307
hg19307
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6885389
SamplesSSM095
Known GenesC16orf45
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)esv2714016
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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