A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723022



Internal ID10306658
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:8991788..8991885hg38UCSC Ensembl
Outerchr21:9830621..9830718hg19UCSC Ensembl
Cytoband21p11.2
Allele length
AssemblyAllele length
hg3898
hg1998
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6967713
SamplesSSM027
Known Genes
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)esv2723022
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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