A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25791905



Internal ID18827979
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:22358243..22914964hg38UCSC Ensembl
Innerchr15:22958104..23585019hg19UCSC Ensembl
Innerchr15:20509545..21136460hg18UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg38556722
hg19626916
hg18626916
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892626
Supporting Variants
Samples
Known GenesCYFIP1, GOLGA8EP, GOLGA8I, HERC2P2, HERC2P7, LOC283683, LOC440243, NIPA1, NIPA2, WHAMMP3
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=85
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25791905
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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