A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3334248



Internal ID15181235
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:32862136..32862148hg38UCSC Ensembl
Innerchr20:32862138..32862146hg38UCSC Ensembl
Outerchr20:32862134..32862150hg38UCSC Ensembl
chr20:31449942..31449954hg19UCSC Ensembl
Innerchr20:31449944..31449952hg19UCSC Ensembl
Outerchr20:31449940..31449956hg19UCSC Ensembl
chr20:30913603..30913615hg18UCSC Ensembl
Innerchr20:30913605..30913613hg18UCSC Ensembl
Outerchr20:30913601..30913617hg18UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg3851
hg1951
hg1851
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7866159
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3334248
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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