A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25784967



Internal ID19176928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:40505221..40512230hg38UCSC Ensembl
Innerchr21:41877148..41884157hg19UCSC Ensembl
Innerchr21:40799018..40806027hg18UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg387010
hg197010
hg187010
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893412
Supporting Variants
Samples
Known GenesDSCAM
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=5
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25784967
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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