A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1766304



Internal ID12582737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132212509..132213110hg38UCSC Ensembl
chr12:132697054..132697655hg19UCSC Ensembl
chr12:131263007..131263608hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38602
hg19602
hg18602
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3958871
SamplesHuRef
Known GenesGALNT9
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1766304
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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