A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788909



Internal ID18825454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:155509106..155619329hg38UCSC Ensembl
Innerchr1:155478897..155589120hg19UCSC Ensembl
Innerchr1:153745521..153855744hg18UCSC Ensembl
Cytoband1q22
Allele length
AssemblyAllele length
hg38110224
hg19110224
hg18110224
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3890671
Supporting Variants
Samples
Known GenesASH1L, ASH1L-AS1, MSTO1, MSTO2P
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=17
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788909
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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