A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6916537



Internal ID10027461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:1245529..1246011hg38UCSC Ensembl
Outerchr16:1295530..1296012hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38483
hg19483
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2750310, esv2750309, esv2750311
Supporting Variants
SamplesSSM016
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)essv6916537
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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