A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3387435



Internal ID14887718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:45969047..45969061hg38UCSC Ensembl
Innerchr2:45969038..45969068hg38UCSC Ensembl
Outerchr2:45969026..45969082hg38UCSC Ensembl
chr2:46196186..46196200hg19UCSC Ensembl
Innerchr2:46196177..46196207hg19UCSC Ensembl
Outerchr2:46196165..46196221hg19UCSC Ensembl
chr2:46049690..46049704hg18UCSC Ensembl
Innerchr2:46049711..46049681hg18UCSC Ensembl
Outerchr2:46049669..46049725hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8674792, essv8674791, essv8674790
SamplesNA12891, NA19238, NA19240
Known GenesPRKCE
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3387435
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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