A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6768949



Internal ID9827097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:82970331..82970623hg38UCSC Ensembl
Outerchr16:83003936..83004228hg19UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg38293
hg19293
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2714802
Supporting Variants
SamplesSSM064
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)essv6768949
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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