A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6807049



Internal ID9861780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:37187225..37187513hg38UCSC Ensembl
Outerchr20:35815628..35815916hg19UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg38289
hg19289
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2722385
Supporting Variants
SamplesSSM074
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)essv6807049
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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