A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3409875



Internal ID15256835
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:131996994..131997013hg38UCSC Ensembl
Innerchr5:131996990..131997017hg38UCSC Ensembl
Outerchr5:131996971..131997036hg38UCSC Ensembl
chr5:131332687..131332706hg19UCSC Ensembl
Innerchr5:131332683..131332710hg19UCSC Ensembl
Outerchr5:131332664..131332729hg19UCSC Ensembl
chr5:131360586..131360605hg18UCSC Ensembl
Innerchr5:131360609..131360582hg18UCSC Ensembl
Outerchr5:131360563..131360628hg18UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8678945
SamplesNA19240
Known GenesACSL6
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3409875
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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