A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3370224



Internal ID15217200
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:38966957..38968055hg38UCSC Ensembl
Innerchr3:38967055..38967957hg38UCSC Ensembl
Outerchr3:38965957..38969055hg38UCSC Ensembl
chr3:39008448..39009546hg19UCSC Ensembl
Innerchr3:39008546..39009448hg19UCSC Ensembl
Outerchr3:39007448..39010546hg19UCSC Ensembl
chr3:38983452..38984550hg18UCSC Ensembl
Innerchr3:38984452..38983550hg18UCSC Ensembl
Outerchr3:38982452..38985550hg18UCSC Ensembl
Cytoband3p22.2
Allele length
AssemblyAllele length
hg381099
hg191099
hg181099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8694071
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3370224
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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