A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15842457



Internal ID5844273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:36534951..36658356hg38UCSC Ensembl
chr18:34114914..34238319hg19UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg38123406
hg19123406
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642232
Supporting Variants
SamplesNA12004
Known GenesFHOD3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15842457
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