A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7842288



Internal ID15008198
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 StatusS
Merged Variantsesv3307926
Supporting Variants
SamplesNA19238
Known GenesACSL6
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7842288
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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