A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629622



Internal ID7016443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:58093173..58111535hg38UCSC Ensembl
chr12:58486956..58505318hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg3818363
hg1918363
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14492398, essv14492399, essv14492397
SamplesNA19394, NA19315, NA18934
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629622
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer