A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628861



Internal ID6669002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:24217468..24224767hg38UCSC Ensembl
chr12:24370402..24377701hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg387300
hg197300
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14410974, essv14410975
SamplesHG01624, NA21106
Known GenesSOX5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628861
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