A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6852587



Internal ID9904124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:4224453..4224811hg38UCSC Ensembl
Outerchr20:4205100..4205458hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg38359
hg19359
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2722127
Supporting Variants
SamplesSSM086
Known GenesADRA1D
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)essv6852587
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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