A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9858435



Internal ID2056183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:12841517..12861395hg38UCSC Ensembl
chr1:12901370..12921250hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3819879
hg1919881
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585248
Supporting Variants
SamplesHG01874
Known GenesHNRNPCL1, LOC649330, PRAMEF2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9858435
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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