A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3309619



Internal ID15156570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:10422715..10422716hg38UCSC Ensembl
Innerchr5:10422684..10422747hg38UCSC Ensembl
Outerchr5:10422683..10422748hg38UCSC Ensembl
chr5:10422827..10422828hg19UCSC Ensembl
Innerchr5:10422796..10422859hg19UCSC Ensembl
Outerchr5:10422795..10422860hg19UCSC Ensembl
chr5:10475827..10475828hg18UCSC Ensembl
Innerchr5:10475859..10475796hg18UCSC Ensembl
Outerchr5:10475795..10475860hg18UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38176
hg19176
hg18176
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7836966, essv7837683
SamplesNA19239, NA19240
Known GenesMARCH6
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3309619
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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