A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6824900



Internal ID9879205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:45108597..45108969hg38UCSC Ensembl
Outerchr21:46528512..46528884hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38373
hg19373
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2723714
Supporting Variants
SamplesSSM079
Known GenesADARB1
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)essv6824900
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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