A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3631005



Internal ID7017819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:124124091..124129983hg38UCSC Ensembl
chr12:124608637..124614529hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg385893
hg195893
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14622597, essv14622598
SamplesHG01761, HG03388
Known GenesZNF664-FAM101A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3631005
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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