A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788714



Internal ID19163661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:11323791..11390068hg38UCSC Ensembl
Innerchr12:11476725..11543002hg19UCSC Ensembl
Innerchr12:11367992..11434269hg18UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3866278
hg1966278
hg1866278
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892140
Supporting Variants
Samples
Known GenesPRB1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=18
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788714
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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