A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16215929



Internal ID4667538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:56430399..56481532hg38UCSC Ensembl
chr20:55005455..55056588hg19UCSC Ensembl
Cytoband20q13.31
Allele length
AssemblyAllele length
hg3851134
hg1951134
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3646190
Supporting Variants
SamplesHG04194
Known GenesCASS4, RTFDC1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16215929
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer