A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3891303



Internal ID18839013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12800601..12823268hg38UCSC Ensembl
Outerchr1:12794693..12839256hg38UCSC Ensembl
Innerchr1:12860749..12883131hg19UCSC Ensembl
Outerchr1:12854842..12899109hg19UCSC Ensembl
Innerchr1:12783336..12805718hg18UCSC Ensembl
Outerchr1:12777429..12821696hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3844564
hg1944268
hg1844268
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25784694, essv25789505, essv25782822, essv25788805, essv25784759, essv25788571, essv25786075, essv25800866, essv25800612, essv25789118, essv25783416, essv25781234
Samples
Known GenesPRAMEF1, PRAMEF11
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3891303
Frequency
Sample Size3017
Observed Gain4
Observed Loss8
Observed Complex0
Frequencyn/a


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