A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12000172



Internal ID5643974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:102153949..102233879hg38UCSC Ensembl
chr5:101489653..101569583hg19UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg3879931
hg1979931
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606035
Supporting Variants
SamplesNA19064
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12000172
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