A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6870253



Internal ID10008789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:32285864..33492115hg38UCSC Ensembl
Outerchr16:32297185..33294582hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg381206252
hg19997398
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2714201
Supporting Variants
SamplesSSM011
Known GenesLOC390705, SLC6A10P, TP53TG3, TP53TG3B, TP53TG3C
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)essv6870253
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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