A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3548916



Internal ID18403306
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:26731939..26732033hg38UCSC Ensembl
chr12:26884872..26884966hg19UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg3895
hg1995
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9747663
Samples
Known GenesITPR2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3548916
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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