A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3449017



Internal ID14949280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:45872009..45875107hg38UCSC Ensembl
Innerchr2:45873009..45874107hg38UCSC Ensembl
Outerchr2:45871009..45876107hg38UCSC Ensembl
chr2:46099148..46102246hg19UCSC Ensembl
Innerchr2:46100148..46101246hg19UCSC Ensembl
Outerchr2:46098148..46103246hg19UCSC Ensembl
chr2:45952652..45955750hg18UCSC Ensembl
Innerchr2:45953652..45954750hg18UCSC Ensembl
Outerchr2:45951652..45956750hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg383099
hg193099
hg183099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8693651
SamplesNA19239
Known GenesPRKCE
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3449017
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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