A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25789475



Internal ID18823083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:25437720..25633741hg38UCSC Ensembl
Innerchr20:25418356..25614377hg19UCSC Ensembl
Innerchr20:25366356..25562377hg18UCSC Ensembl
Cytoband20p11.1
Allele length
AssemblyAllele length
hg38196022
hg19196022
hg18196022
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893324
Supporting Variants
Samples
Known GenesGINS1, NANP, NINL
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=54
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25789475
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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