A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3309658



Internal ID15156609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:124812117..124812118hg38UCSC Ensembl
Innerchr5:124812100..124812135hg38UCSC Ensembl
Outerchr5:124812099..124812136hg38UCSC Ensembl
chr5:124147810..124147811hg19UCSC Ensembl
Innerchr5:124147793..124147828hg19UCSC Ensembl
Outerchr5:124147792..124147829hg19UCSC Ensembl
chr5:124175709..124175710hg18UCSC Ensembl
Innerchr5:124175727..124175692hg18UCSC Ensembl
Outerchr5:124175691..124175728hg18UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg38226
hg19226
hg18226
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7841622, essv7842859, essv7842348
SamplesNA19238, NA19239, NA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3309658
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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