A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2585697



Internal ID590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:41357664..41357664hg38UCSC Ensembl
Outerchr21:41356534..41359338hg38UCSC Ensembl
Innerchr21:42729591..42729591hg19UCSC Ensembl
Outerchr21:42728461..42731265hg19UCSC Ensembl
Innerchr21:41651461..41651461hg18UCSC Ensembl
Outerchr21:41650331..41653135hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg382805
hg192805
hg182805
Variant TypeCNV loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv274983
Supporting Variants
Samples
Known GenesFAM3B
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)essv2585697
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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