A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672186



Internal ID9591605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:226955387..226957064hg38UCSC Ensembl
chr1:227143088..227144765hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg381678
hg191678
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5916465, essv6270434, essv5422993, essv5956925, essv6212460, essv5470282, essv5877270, essv6595124, essv5852531, essv6063921, essv6466053, essv5981649, essv5741905, essv5830090, essv6284322, essv5488864, essv6099556, essv6376571, essv5687872
SamplesNA18595, NA18534, NA18561, HG00705, NA18550, HG00475, NA18542, HG00479, NA18632, NA18559, NA18576, HG00525, NA18619, HG00663, NA18602, HG00608, NA18577, HG00654, HG00708
Known GenesADCK3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672186
Frequency
Sample Size1151
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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