A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25789118



Internal ID18829150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12794693..12823268hg38UCSC Ensembl
Innerchr1:12854842..12883131hg19UCSC Ensembl
Innerchr1:12777429..12805718hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3828576
hg1928290
hg1828290
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891303
Supporting Variants
Samples
Known GenesPRAMEF1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=16
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25789118
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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