A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25781234



Internal ID18825274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12794693..12839256hg38UCSC Ensembl
Innerchr1:12854842..12899109hg19UCSC Ensembl
Innerchr1:12777429..12821696hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3844564
hg1944268
hg1844268
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891303
Supporting Variants
Samples
Known GenesPRAMEF1, PRAMEF11
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=20
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25781234
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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