A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6916652



Internal ID10027564
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:46416667..46420858hg38UCSC Ensembl
Outerchr16:46450579..46454770hg19UCSC Ensembl
Cytoband16q11.2
Allele length
AssemblyAllele length
hg384192
hg194192
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2714419, esv2714399, esv2714405, esv2714402, esv2714391, esv2714384, esv2714397, esv2714412, esv2714408
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)essv6916652
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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