A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25792196



Internal ID19164474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:82121871..83244363hg38UCSC Ensembl
Innerchr8:83034106..84156598hg19UCSC Ensembl
Innerchr8:83196661..84319153hg18UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg381122493
hg191122493
hg181122493
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891423
Supporting Variants
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=194
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25792196
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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