A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14329576



Internal ID4331392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:417352..561839hg38UCSC Ensembl
chr12:526518..671005hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38144488
hg19144488
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628236
Supporting Variants
SamplesNA19435
Known GenesB4GALNT3, CCDC77
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14329576
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