A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12111539



Internal ID4086935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:157698540..157714009hg38UCSC Ensembl
chr5:157125548..157141017hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg3815470
hg1915470
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607321
Supporting Variants
SamplesHG03714
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12111539
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