A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788981



Internal ID19162972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:213481236..213731999hg38UCSC Ensembl
Innerchr1:213654579..213905342hg19UCSC Ensembl
Innerchr1:211721202..211971965hg18UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg38250764
hg19250764
hg18250764
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891126
Supporting Variants
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=74
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788981
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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