A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5879279



Internal ID9079236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:224945928..225060952hg38UCSC Ensembl
chr1:225133630..225248654hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg38115025
hg19115025
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2667872
Supporting Variants
SamplesHG01055
Known GenesDNAH14
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5879279
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