A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6941341



Internal ID10049340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:61273841..61274421hg38UCSC Ensembl
Outerchr20:59848897..59849477hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38581
hg19581
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2722692, esv2722690, esv2722686
Supporting Variants
SamplesSSM022
Known GenesCDH4
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)essv6941341
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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