A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3309422



Internal ID14809686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:143547401..143547402hg38UCSC Ensembl
Innerchr2:143547384..143547419hg38UCSC Ensembl
Outerchr2:143547383..143547420hg38UCSC Ensembl
chr2:144304970..144304971hg19UCSC Ensembl
Innerchr2:144304953..144304988hg19UCSC Ensembl
Outerchr2:144304952..144304989hg19UCSC Ensembl
chr2:144021440..144021441hg18UCSC Ensembl
Innerchr2:144021458..144021423hg18UCSC Ensembl
Outerchr2:144021422..144021459hg18UCSC Ensembl
Cytoband2q22.2
Allele length
AssemblyAllele length
hg386029
hg196029
hg186029
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7840072, essv7840459
SamplesNA12891, NA12878
Known GenesARHGAP15
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3309422
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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