A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6732619



Internal ID10143402
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:32360030..32360641hg38UCSC Ensembl
Outerchr16:32371351..32371962hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38612
hg19612
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2714205, esv2714204, esv2714201, esv2714203
Supporting Variants
SamplesSSM047
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)essv6732619
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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