A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3342650



Internal ID14842918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:187240158..187240174hg38UCSC Ensembl
Innerchr3:187240153..187240176hg38UCSC Ensembl
Outerchr3:187240140..187240192hg38UCSC Ensembl
chr3:186957946..186957962hg19UCSC Ensembl
Innerchr3:186957941..186957964hg19UCSC Ensembl
Outerchr3:186957928..186957980hg19UCSC Ensembl
chr3:188440640..188440656hg18UCSC Ensembl
Innerchr3:188440658..188440635hg18UCSC Ensembl
Outerchr3:188440622..188440674hg18UCSC Ensembl
Cytoband3q27.3
Allele length
AssemblyAllele length
hg38266
hg19266
hg18266
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8675108, essv8675110
SamplesNA19239, NA19240
Known GenesMASP1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3342650
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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