A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25792665



Internal ID19160574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:43913082..44216586hg38UCSC Ensembl
Innerchr18:41493047..41796551hg19UCSC Ensembl
Innerchr18:39747045..40050549hg18UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg38303505
hg19303505
hg18303505
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893099
Supporting Variants
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=50
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25792665
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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