A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6936690



Internal ID10042115
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:32513382..32513882hg38UCSC Ensembl
Outerchr16:32524703..32525203hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38501
hg19501
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2714214, esv2714208, esv2714206, esv2714204, esv2714201
Supporting Variants
SamplesSSM021
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)essv6936690
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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