A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6766092



Internal ID9824603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:69948664..70171769hg38UCSC Ensembl
Outerchr16:69982567..70205672hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg38223106
hg19223106
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2714669
Supporting Variants
SamplesSSM063
Known GenesCLEC18A, MIR1972-1, MIR1972-2, PDPR, PDXDC2P
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)essv6766092
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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