A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3307926



Internal ID15154874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:131996995..131996996hg38UCSC Ensembl
Innerchr5:131996979..131997012hg38UCSC Ensembl
Outerchr5:131996978..131997013hg38UCSC Ensembl
chr5:131332688..131332689hg19UCSC Ensembl
Innerchr5:131332672..131332705hg19UCSC Ensembl
Outerchr5:131332671..131332706hg19UCSC Ensembl
chr5:131360587..131360588hg18UCSC Ensembl
Innerchr5:131360604..131360571hg18UCSC Ensembl
Outerchr5:131360570..131360605hg18UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg38297
hg19297
hg18297
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7842288, essv7841953
SamplesNA19238, NA19240
Known GenesACSL6
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3307926
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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