A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6753244



Internal ID10161161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:63553325..63553884hg38UCSC Ensembl
Outerchr20:62184678..62185237hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38560
hg19560
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2722935
Supporting Variants
SamplesSSM057
Known GenesC20orf195
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)essv6753244
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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