A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3331091



Internal ID14831366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:62228701..62231999hg38UCSC Ensembl
Innerchr20:62229701..62230999hg38UCSC Ensembl
Outerchr20:62227701..62232999hg38UCSC Ensembl
chr20:60803757..60807055hg19UCSC Ensembl
Innerchr20:60804757..60806055hg19UCSC Ensembl
Outerchr20:60802757..60808055hg19UCSC Ensembl
chr20:60237152..60240450hg18UCSC Ensembl
Innerchr20:60238152..60239450hg18UCSC Ensembl
Outerchr20:60236152..60241450hg18UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg383299
hg193299
hg183299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8692601
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3331091
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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