A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3891395



Internal ID18839105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:52392494..52666994hg38UCSC Ensembl
Outerchr8:52330215..52674146hg38UCSC Ensembl
Innerchr8:53305054..53579554hg19UCSC Ensembl
Outerchr8:53242775..53586706hg19UCSC Ensembl
Innerchr8:53467607..53742107hg18UCSC Ensembl
Outerchr8:53405328..53749259hg18UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg38343932
hg19343932
hg18343932
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25790572, essv25790104, essv25789549, essv25789574, essv25788726
Samples
Known GenesFAM150A, RB1CC1, ST18
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3891395
Frequency
Sample Size3017
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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