A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628544



Internal ID6668687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:10722261..10757732hg38UCSC Ensembl
chr12:10874860..10910331hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3835472
hg1935472
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14376481
SamplesHG01256
Known GenesYBX3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628544
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