A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8692569



Internal ID15068337
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:57321189..57322087hg38UCSC Ensembl
Innerchr20:57321188..57322088hg38UCSC Ensembl
Outerchr20:57320189..57323087hg38UCSC Ensembl
chr20:55896245..55897143hg19UCSC Ensembl
Innerchr20:55896244..55897144hg19UCSC Ensembl
Outerchr20:55895245..55898143hg19UCSC Ensembl
chr20:55329652..55330550hg18UCSC Ensembl
Innerchr20:55330551..55329651hg18UCSC Ensembl
Outerchr20:55328652..55331550hg18UCSC Ensembl
Cytoband20q13.31
Allele length
AssemblyAllele length
hg38899
hg19899
hg18899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3337351
Supporting Variants
SamplesNA19239
Known GenesMIR4325
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8692569
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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