A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629653



Internal ID6669792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:59417980..59610460hg38UCSC Ensembl
chr12:59811761..60004241hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg38192481
hg19192481
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14497740
SamplesNA19027
Known GenesSLC16A7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629653
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