A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3891748



Internal ID18839458
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12792723..12901187hg38UCSC Ensembl
Outerchr1:12790393..12901188hg38UCSC Ensembl
Innerchr1:12852872..12961018hg19UCSC Ensembl
Outerchr1:12850542..12961019hg19UCSC Ensembl
Innerchr1:12775459..12883605hg18UCSC Ensembl
Outerchr1:12773129..12883606hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg38110796
hg19110478
hg18110478
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25788080, essv25798021, essv25788182, essv25796445
Samples
Known GenesHNRNPCL1, LOC649330, PRAMEF1, PRAMEF10, PRAMEF11, PRAMEF2, PRAMEF4
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3891748
Frequency
Sample Size3017
Observed Gain2
Observed Loss2
Observed Complex0
Frequencyn/a


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