A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723587



Internal ID10307223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:43275435..43276451hg38UCSC Ensembl
Outerchr21:44695315..44696331hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg381017
hg191017
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6821101, essv6906049, essv6766489, essv6877623
SamplesSSM013, SSM092, SSM078, SSM063
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)esv2723587
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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