A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6692681



Internal ID9759340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:44522952..44523382hg38UCSC Ensembl
Outerchr21:45942835..45943265hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38431
hg19431
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2723638, esv2723671
Supporting Variants
SamplesSSM036
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)essv6692681
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer