A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6874049



Internal ID10270127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:32085388..33028749hg38UCSC Ensembl
Outerchr16:32096709..33040070hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38943362
hg19943362
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2714201
Supporting Variants
SamplesSSM091
Known GenesHERC2P4, LOC390705, SLC6A10P, TP53TG3, TP53TG3B, TP53TG3C, TP53TG3D
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)essv6874049
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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