A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714034



Internal ID10297670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:17032324..17032440hg38UCSC Ensembl
Outerchr16:17126181..17126297hg19UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg38117
hg19117
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6828190, essv6960108, essv6857975
SamplesSSM087, SSM026, SSM080
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)esv2714034
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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