A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723668



Internal ID9957968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:44502884..44502992hg38UCSC Ensembl
Outerchr21:45922767..45922875hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38109
hg19109
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6863862, essv6868664
SamplesSSM088, SSM089
Known GenesTSPEAR
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)esv2723668
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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