A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723715



Internal ID9958015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:45108723..45108780hg38UCSC Ensembl
Outerchr21:46528638..46528695hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6967831
SamplesSSM027
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)esv2723715
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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