A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668884



Internal ID9934989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:116449745..116449944hg38UCSC Ensembl
chr12:116887550..116887749hg19UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg38200
hg19200
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6091989, essv5627929, essv5898500, essv6389984, essv6049216, essv5655892, essv5575539, essv6159389, essv6275445, essv5767455, essv6190360, essv6330546, essv6471608, essv5970510
SamplesNA19397, NA19359, NA19393, NA19374, NA19373, NA19371, NA19239, NA19225, NA18523, NA19436, NA19401, NA19240, NA19439, NA18505
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668884
Frequency
Sample Size1151
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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