A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6867914



Internal ID9917918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:89732787..89732988hg38UCSC Ensembl
Outerchr16:89799195..89799396hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38202
hg19202
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2715200, esv2715199
Supporting Variants
SamplesSSM089
Known GenesZNF276
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)essv6867914
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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