A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3400430



Internal ID14900707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:45703127..45703128hg38UCSC Ensembl
Innerchr2:45703126..45703129hg38UCSC Ensembl
Outerchr2:45703125..45703130hg38UCSC Ensembl
chr2:45930266..45930267hg19UCSC Ensembl
Innerchr2:45930265..45930268hg19UCSC Ensembl
Outerchr2:45930264..45930269hg19UCSC Ensembl
chr2:45783770..45783771hg18UCSC Ensembl
Innerchr2:45783772..45783769hg18UCSC Ensembl
Outerchr2:45783768..45783773hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3851
hg1951
hg1851
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7863895
SamplesNA12005
Known GenesPRKCE
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3400430
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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