A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788726



Internal ID18827638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:52330215..52666994hg38UCSC Ensembl
Innerchr8:53242775..53579554hg19UCSC Ensembl
Innerchr8:53405328..53742107hg18UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg38336780
hg19336780
hg18336780
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891395
Supporting Variants
Samples
Known GenesFAM150A, RB1CC1, ST18
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=74
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788726
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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