A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25784694



Internal ID18822863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12794693..12830906hg38UCSC Ensembl
Innerchr1:12854842..12890761hg19UCSC Ensembl
Innerchr1:12777429..12813348hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3836214
hg1935920
hg1835920
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=18
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25784694
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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