A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723718



Internal ID9958018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:45152088..45152603hg38UCSC Ensembl
Outerchr21:46572003..46572518hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38516
hg19516
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6937599, essv6675135
SamplesSSM031, SSM021
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)esv2723718
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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