A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6882681



Internal ID9931210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:10764588..10764997hg38UCSC Ensembl
Outerchr16:10858445..10858854hg19UCSC Ensembl
Cytoband16p13.13
Allele length
AssemblyAllele length
hg38410
hg19410
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2713968, esv2713967
Supporting Variants
SamplesSSM094
Known GenesNUBP1
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)essv6882681
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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