A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16215927



Internal ID4667553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:56429038..56471148hg38UCSC Ensembl
chr20:55004094..55046204hg19UCSC Ensembl
Cytoband20q13.31
Allele length
AssemblyAllele length
hg3842111
hg1942111
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3646188
Supporting Variants
SamplesHG04194
Known GenesCASS4, RTFDC1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16215927
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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