A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25792519



Internal ID18823170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:101900840..101961564hg38UCSC Ensembl
Innerchr12:102294618..102355342hg19UCSC Ensembl
Innerchr12:100818749..100879473hg18UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg3860725
hg1960725
hg1860725
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892258
Supporting Variants
Samples
Known GenesDRAM1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=26
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25792519
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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