A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25792115



Internal ID19162306
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:52451377..52588725hg38UCSC Ensembl
Innerchr8:53363937..53501285hg19UCSC Ensembl
Innerchr8:53526490..53663838hg18UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg38137349
hg19137349
hg18137349
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891394
Supporting Variants
Samples
Known GenesFAM150A
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=42
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25792115
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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