A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5950117



Internal ID8927520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:122409237..122411168hg38UCSC Ensembl
Outerchr12:122409080..122411321hg38UCSC Ensembl
Innerchr12:122893784..122895715hg19UCSC Ensembl
Outerchr12:122893627..122895868hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg382242
hg192242
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2673330
Supporting Variants
SamplesHG01051
Known GenesCLIP1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5950117
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