A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6792490



Internal ID9848529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:88863222..88863352hg38UCSC Ensembl
Outerchr16:88929630..88929760hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38131
hg19131
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2715066, esv2715064
Supporting Variants
SamplesSSM070
Known GenesPABPN1L
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)essv6792490
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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