A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15836667



Internal ID5838483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:31382949..31436217hg38UCSC Ensembl
chr18:28962912..29016180hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg3853269
hg1953269
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642124
Supporting Variants
SamplesHG02072
Known GenesDSG4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15836667
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