A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8694105



Internal ID15041023
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:53640085..53641983hg38UCSC Ensembl
Innerchr3:53640983..53641085hg38UCSC Ensembl
Outerchr3:53639085..53642983hg38UCSC Ensembl
chr3:53674112..53676010hg19UCSC Ensembl
Innerchr3:53675010..53675112hg19UCSC Ensembl
Outerchr3:53673112..53677010hg19UCSC Ensembl
chr3:53649152..53651050hg18UCSC Ensembl
Innerchr3:53650152..53650050hg18UCSC Ensembl
Outerchr3:53648152..53652050hg18UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg381899
hg191899
hg181899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3449699
Supporting Variants
SamplesNA19239
Known GenesCACNA1D
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8694105
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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