A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8975085



Internal ID14873052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:6594849..6594871hg38UCSC Ensembl
Innerchr20:6594850..6594867hg38UCSC Ensembl
Outerchr20:6594828..6594892hg38UCSC Ensembl
chr20:6575496..6575518hg19UCSC Ensembl
Innerchr20:6575497..6575514hg19UCSC Ensembl
Outerchr20:6575475..6575539hg19UCSC Ensembl
chr20:6523496..6523518hg18UCSC Ensembl
Innerchr20:6523514..6523497hg18UCSC Ensembl
Outerchr20:6523475..6523539hg18UCSC Ensembl
Cytoband20p12.3
Allele length
AssemblyAllele length
hg38224
hg19224
hg18224
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3347190
Supporting Variants
SamplesNA19116
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8975085
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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