A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6741560



Internal ID10148387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:85208517..85209113hg38UCSC Ensembl
Outerchr16:85242123..85242719hg19UCSC Ensembl
Cytoband16q24.1
Allele length
AssemblyAllele length
hg38597
hg19597
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2714844
Supporting Variants
SamplesSSM052
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)essv6741560
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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