A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25792222



Internal ID19170886
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:51950685..52049172hg38UCSC Ensembl
Innerchr18:49477055..49575542hg19UCSC Ensembl
Innerchr18:47731053..47829540hg18UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg3898488
hg1998488
hg1898488
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893103
Supporting Variants
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=20
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25792222
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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