A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15958578



Internal ID5960394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:79646532..79693043hg38UCSC Ensembl
chr18:77406532..77453043hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg3846512
hg1946512
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643312
Supporting Variants
SamplesHG02661
Known GenesCTDP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15958578
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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