A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3347501



Internal ID15194483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:32505689..32506987hg38UCSC Ensembl
Innerchr5:32505987..32506689hg38UCSC Ensembl
Outerchr5:32504689..32507987hg38UCSC Ensembl
chr5:32505795..32507093hg19UCSC Ensembl
Innerchr5:32506093..32506795hg19UCSC Ensembl
Outerchr5:32504795..32508093hg19UCSC Ensembl
chr5:32541552..32542850hg18UCSC Ensembl
Innerchr5:32542552..32541850hg18UCSC Ensembl
Outerchr5:32540552..32543850hg18UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg381299
hg191299
hg181299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8694747
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3347501
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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