A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2661164



Internal ID9580583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:93749506..93750330hg38UCSC Ensembl
chr12:94143282..94144106hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg38825
hg19825
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5610899, essv5608684, essv6215630, essv5656552
SamplesHG00185, HG00183, HG00312, NA19755
Known GenesCRADD
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2661164
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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