A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8692577



Internal ID15032887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:59120702..59123000hg38UCSC Ensembl
Innerchr20:59121702..59122000hg38UCSC Ensembl
Outerchr20:59119702..59124000hg38UCSC Ensembl
chr20:57695757..57698055hg19UCSC Ensembl
Innerchr20:57696757..57697055hg19UCSC Ensembl
Outerchr20:57694757..57699055hg19UCSC Ensembl
chr20:57129152..57131450hg18UCSC Ensembl
Innerchr20:57130152..57130450hg18UCSC Ensembl
Outerchr20:57128152..57132450hg18UCSC Ensembl
Cytoband20q13.32
Allele length
AssemblyAllele length
hg382299
hg192299
hg182299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3430405
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8692577
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer