A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630630



Internal ID6670765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:104203244..104250924hg38UCSC Ensembl
chr12:104597022..104644702hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg3847681
hg1947681
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14596814
SamplesHG01976
Known GenesTXNRD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630630
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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