A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3305340



Internal ID14805602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:45774935..45774936hg38UCSC Ensembl
Innerchr2:45774908..45774963hg38UCSC Ensembl
Outerchr2:45774907..45774964hg38UCSC Ensembl
chr2:46002074..46002075hg19UCSC Ensembl
Innerchr2:46002047..46002102hg19UCSC Ensembl
Outerchr2:46002046..46002103hg19UCSC Ensembl
chr2:45855578..45855579hg18UCSC Ensembl
Innerchr2:45855606..45855551hg18UCSC Ensembl
Outerchr2:45855550..45855607hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38978
hg19978
hg18978
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7756940, essv7760558, essv7745722, essv7748761, essv7753630, essv7756732, essv7748978, essv7754292, essv7757448, essv7761237
SamplesNA18561, NA18944, NA18940, NA18942, NA18973, NA18956, NA18945, NA18576, NA18952, NA18564
Known GenesPRKCE
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3305340
Frequency
Sample Size185
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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