A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25787856



Internal ID18813116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:151362320..151435216hg38UCSC Ensembl
Innerchr1:151334796..151407692hg19UCSC Ensembl
Innerchr1:149601420..149674316hg18UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3872897
hg1972897
hg1872897
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3894200
Supporting Variants
Samples
Known GenesPOGZ, PSMB4, SELENBP1
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=24
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25787856
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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