A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6800847



Internal ID10201779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:60670573..60670995hg38UCSC Ensembl
Outerchr16:60704477..60704899hg19UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg38423
hg19423
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2714590
Supporting Variants
SamplesSSM072
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)essv6800847
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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