A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723299



Internal ID10306935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:26860645..26878073hg38UCSC Ensembl
Outerchr21:28232964..28250392hg19UCSC Ensembl
Cytoband21q21.3
Allele length
AssemblyAllele length
hg3817429
hg1917429
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6718298
SamplesSSM006
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)esv2723299
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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