A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672947



Internal ID9592366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:120878934..120883123hg38UCSC Ensembl
chr12:121316737..121320926hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg384190
hg194190
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6519749
SamplesNA19384
Known GenesSPPL3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672947
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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