A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6851988



Internal ID9903584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:17032127..17032577hg38UCSC Ensembl
Outerchr16:17125984..17126434hg19UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg38451
hg19451
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2714033, esv2714015
Supporting Variants
SamplesSSM086
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)essv6851988
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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