A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8915943



Internal ID14960171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:149191562..149191567hg38UCSC Ensembl
Innerchr3:149191555..149191574hg38UCSC Ensembl
Outerchr3:149191550..149191579hg38UCSC Ensembl
chr3:148909349..148909354hg19UCSC Ensembl
Innerchr3:148909342..148909361hg19UCSC Ensembl
Outerchr3:148909337..148909366hg19UCSC Ensembl
chr3:150392039..150392044hg18UCSC Ensembl
Innerchr3:150392051..150392032hg18UCSC Ensembl
Outerchr3:150392027..150392056hg18UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg38267
hg19267
hg18267
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3326828
Supporting Variants
SamplesNA19190
Known GenesCP
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8915943
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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