A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6777210



Internal ID9653332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:83764478..83764981hg38UCSC Ensembl
Outerchr16:83798083..83798586hg19UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg38504
hg19504
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2714810
Supporting Variants
SamplesSSM008
Known GenesCDH13
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)essv6777210
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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