A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3892157



Internal ID19186553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:19277698..19389229hg38UCSC Ensembl
Outerchr12:19277698..19389229hg38UCSC Ensembl
Innerchr12:19430632..19542163hg19UCSC Ensembl
Outerchr12:19430632..19542163hg19UCSC Ensembl
Innerchr12:19321899..19433430hg18UCSC Ensembl
Outerchr12:19321899..19433430hg18UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg38111532
hg19111532
hg18111532
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25792277
Samples
Known GenesPLEKHA5
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3892157
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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