A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6820297



Internal ID10219873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:32550934..32589039hg38UCSC Ensembl
Outerchr16:32562255..32600360hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3838106
hg1938106
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2714208, esv2714206, esv2714204, esv2714221, esv2714201
Supporting Variants
SamplesSSM078
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)essv6820297
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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