A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3891414



Internal ID18839124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12852235..12943584hg38UCSC Ensembl
Outerchr1:12794693..13048420hg38UCSC Ensembl
Innerchr1:12912088..13003414hg19UCSC Ensembl
Outerchr1:12854842..13051338hg19UCSC Ensembl
Innerchr1:12834675..12926001hg18UCSC Ensembl
Outerchr1:12777429..12973925hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg38253728
hg19196497
hg18196497
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25797208, essv25797433, essv25788937, essv25796483, essv25796029, essv25797241, essv25792878
Samples
Known GenesHNRNPCL1, LOC649330, PRAMEF1, PRAMEF10, PRAMEF11, PRAMEF2, PRAMEF22, PRAMEF4, PRAMEF6, PRAMEF7, PRAMEF8
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Illumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3891414
Frequency
Sample Size3017
Observed Gain2
Observed Loss5
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer