A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723890



Internal ID10307526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:46122919..46123440hg38UCSC Ensembl
Outerchr21:47542833..47543354hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38522
hg19522
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6776867, essv6950476
SamplesSSM024, SSM066
Known GenesCOL6A2
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)esv2723890
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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