A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8692572



Internal ID15112783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:58622490..58623988hg38UCSC Ensembl
Innerchr20:58622988..58623490hg38UCSC Ensembl
Outerchr20:58621490..58624988hg38UCSC Ensembl
chr20:57197546..57199044hg19UCSC Ensembl
Innerchr20:57198044..57198546hg19UCSC Ensembl
Outerchr20:57196546..57200044hg19UCSC Ensembl
chr20:56630952..56632450hg18UCSC Ensembl
Innerchr20:56631952..56631450hg18UCSC Ensembl
Outerchr20:56629952..56633450hg18UCSC Ensembl
Cytoband20q13.32
Allele length
AssemblyAllele length
hg381499
hg191499
hg181499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3409920
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8692572
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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