A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6750018



Internal ID9811050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:16003075..16003655hg38UCSC Ensembl
Outerchr16:16096932..16097512hg19UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg38581
hg19581
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2714015, esv2714022
Supporting Variants
SamplesSSM056
Known GenesABCC1
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)essv6750018
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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