A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16215928



Internal ID6217744
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3646189
Supporting Variants
SamplesHG03479
Known GenesCASS4, RTFDC1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16215928
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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