A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3347190



Internal ID15194172
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 StatusM
Merged Variants
Supporting Variantsessv8975088, essv8975085, essv8975086, essv8975089, essv8975090, essv8975087
SamplesNA18502, NA19138, NA18907, NA18523, NA19102, NA19116
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3347190
Frequency
Sample Size185
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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