A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6682092



Internal ID10094861
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:50579483..50579727hg38UCSC Ensembl
Outerchr16:50613394..50613638hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg38245
hg19245
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2714460, esv2714461
Supporting Variants
SamplesSSM033
Known GenesNKD1
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)essv6682092
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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