A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6682773



Internal ID9748789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:44502697..44503388hg38UCSC Ensembl
Outerchr21:45922580..45923271hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38692
hg19692
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2723638, esv2723666
Supporting Variants
SamplesSSM033
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)essv6682773
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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