A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3338443



Internal ID14838713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:45774931..45774943hg38UCSC Ensembl
Innerchr2:45774929..45774943hg38UCSC Ensembl
Outerchr2:45774919..45774955hg38UCSC Ensembl
chr2:46002070..46002082hg19UCSC Ensembl
Innerchr2:46002068..46002082hg19UCSC Ensembl
Outerchr2:46002058..46002094hg19UCSC Ensembl
chr2:45855574..45855586hg18UCSC Ensembl
Innerchr2:45855586..45855572hg18UCSC Ensembl
Outerchr2:45855562..45855598hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38977
hg19977
hg18977
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8905879, essv8905873, essv8905871, essv8905878, essv8905874, essv8905877, essv8905876, essv8905870, essv8905875, essv8905872
SamplesNA18561, NA18952, NA18576, NA18956, NA18973, NA18564, NA18942, NA18945, NA18940, NA18944
Known GenesPRKCE
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3338443
Frequency
Sample Size185
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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