A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3442523



Internal ID15289476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:39326036..39326136hg38UCSC Ensembl
Innerchr20:39326057..39326113hg38UCSC Ensembl
Outerchr20:39326013..39326157hg38UCSC Ensembl
chr20:37954679..37954779hg19UCSC Ensembl
Innerchr20:37954700..37954756hg19UCSC Ensembl
Outerchr20:37954656..37954800hg19UCSC Ensembl
chr20:37388093..37388193hg18UCSC Ensembl
Innerchr20:37388114..37388170hg18UCSC Ensembl
Outerchr20:37388070..37388214hg18UCSC Ensembl
Cytoband20q12
Allele length
AssemblyAllele length
hg38101
hg19101
hg18101
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8670942, essv8670940
SamplesNA19238, NA12878
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3442523
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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