A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664156



Internal ID9930261
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:105547457..105550688hg38UCSC Ensembl
chr12:105941235..105944466hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg383232
hg193232
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5676322, essv5897287, essv6195263, essv6030876, essv6406238, essv5692351, essv5618928, essv6038557
SamplesHG00702, HG00590, HG00705, HG00464, HG00556, HG00531, HG00656, HG00595
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664156
Frequency
Sample Size1151
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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