A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12046496



Internal ID2048312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:124658867..124668615hg38UCSC Ensembl
chr5:123994560..124004308hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg389749
hg199749
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606634
Supporting Variants
SamplesHG03692
Known GenesZNF608
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12046496
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