A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8694073



Internal ID15041103
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:42867756..42869954hg38UCSC Ensembl
Innerchr3:42868756..42868954hg38UCSC Ensembl
Outerchr3:42866756..42870954hg38UCSC Ensembl
chr3:42909248..42911446hg19UCSC Ensembl
Innerchr3:42910248..42910446hg19UCSC Ensembl
Outerchr3:42908248..42912446hg19UCSC Ensembl
chr3:42884252..42886450hg18UCSC Ensembl
Innerchr3:42885252..42885450hg18UCSC Ensembl
Outerchr3:42883252..42887450hg18UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg382199
hg192199
hg182199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3334229
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8694073
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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