A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723784



Internal ID9958084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:45507135..45507314hg38UCSC Ensembl
Outerchr21:46927049..46927228hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38180
hg19180
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6668866
SamplesSSM004
Known GenesCOL18A1
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)esv2723784
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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