A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6682434



Internal ID9748483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:37187194..37187506hg38UCSC Ensembl
Outerchr20:35815597..35815909hg19UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg38313
hg19313
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2722385
Supporting Variants
SamplesSSM033
Known GenesRPN2
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)essv6682434
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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