A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1004916



Internal ID6717039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:120733538..120733597hg38UCSC Ensembl
chr12:121171341..121171400hg19UCSC Ensembl
chr12:119655724..119655783hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3860
hg1960
hg1860
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3577016
SamplesHuRef
Known GenesACADS
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1004916
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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