A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3646189



Internal ID6686248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:56430399..56481532hg38UCSC Ensembl
chr20:55005455..55056588hg19UCSC Ensembl
Cytoband20q13.31
Allele length
AssemblyAllele length
hg3851134
hg1951134
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16215928
SamplesHG03479
Known GenesCASS4, RTFDC1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3646189
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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