A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714550



Internal ID9948834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:58331529..58331944hg38UCSC Ensembl
Outerchr16:58365433..58365848hg19UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg38416
hg19416
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6920794, essv6949687, essv6747221, essv6828284, essv6877099
SamplesSSM024, SSM092, SSM017, SSM080, SSM055
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)esv2714550
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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