A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6732583



Internal ID10143370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:1397347..1397752hg38UCSC Ensembl
Outerchr16:1447348..1447753hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38406
hg19406
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2750336, esv2750338
Supporting Variants
SamplesSSM047
Known GenesUNKL
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)essv6732583
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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