A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6824203



Internal ID9878578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:66379970..66380173hg38UCSC Ensembl
Outerchr16:66413873..66414076hg19UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg38204
hg19204
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2714642, esv2714643
Supporting Variants
SamplesSSM079
Known GenesCDH5
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)essv6824203
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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