A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8692442



Internal ID15111999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:11368804..11370002hg38UCSC Ensembl
Innerchr20:11369002..11369804hg38UCSC Ensembl
Outerchr20:11367804..11371002hg38UCSC Ensembl
chr20:11349452..11350650hg19UCSC Ensembl
Innerchr20:11349650..11350452hg19UCSC Ensembl
Outerchr20:11348452..11351650hg19UCSC Ensembl
chr20:11297452..11298650hg18UCSC Ensembl
Innerchr20:11298452..11297650hg18UCSC Ensembl
Outerchr20:11296452..11299650hg18UCSC Ensembl
Cytoband20p12.2
Allele length
AssemblyAllele length
hg381199
hg191199
hg181199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3376008
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8692442
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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