A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25787833



Internal ID18815788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:180703656..181043092hg38UCSC Ensembl
Innerchr1:180672792..181012228hg19UCSC Ensembl
Innerchr1:178939415..179278851hg18UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg38339437
hg19339437
hg18339437
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3890804
Supporting Variants
Samples
Known GenesKIAA1614, MR1, STX6, XPR1
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=59
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25787833
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