A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6888393



Internal ID10283212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:32359986..33566067hg38UCSC Ensembl
Outerchr16:32371307..33368534hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg381206082
hg19997228
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2714201
Supporting Variants
SamplesSSM096
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)essv6888393
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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