A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8694103



Internal ID15041275
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:53169496..53171594hg38UCSC Ensembl
Innerchr3:53170496..53170594hg38UCSC Ensembl
Outerchr3:53168496..53172594hg38UCSC Ensembl
chr3:53203512..53205610hg19UCSC Ensembl
Innerchr3:53204512..53204610hg19UCSC Ensembl
Outerchr3:53202512..53206610hg19UCSC Ensembl
chr3:53178552..53180650hg18UCSC Ensembl
Innerchr3:53179552..53179650hg18UCSC Ensembl
Outerchr3:53177552..53181650hg18UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg382099
hg192099
hg182099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3325228
Supporting Variants
SamplesNA19239
Known GenesPRKCD
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8694103
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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