A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15934234



Internal ID5476993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:75589643..75614290hg38UCSC Ensembl
chr18:73301598..73326245hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg3824648
hg1924648
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643141
Supporting Variants
SamplesNA18976
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15934234
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