A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14618503



Internal ID4620319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:120439963..120450931hg38UCSC Ensembl
chr12:120877766..120888734hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3810969
hg1910969
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630923
Supporting Variants
SamplesHG00160
Known GenesCOX6A1, GATC, TRIAP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14618503
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