A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3360051



Internal ID14860313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:84926710..84926729hg38UCSC Ensembl
Innerchr1:84926706..84926733hg38UCSC Ensembl
Outerchr1:84926687..84926752hg38UCSC Ensembl
chr1:85392393..85392412hg19UCSC Ensembl
Innerchr1:85392389..85392416hg19UCSC Ensembl
Outerchr1:85392370..85392435hg19UCSC Ensembl
chr1:85164981..85165000hg18UCSC Ensembl
Innerchr1:85165004..85164977hg18UCSC Ensembl
Outerchr1:85164958..85165023hg18UCSC Ensembl
Cytoband1p22.3
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 Variantsessv9595401
SamplesNA19141
Known GenesMCOLN2
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3360051
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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