A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5653357



Internal ID9816580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:122150082..122165852hg38UCSC Ensembl
Outerchr12:122149925..122166005hg38UCSC Ensembl
Innerchr12:122634629..122650399hg19UCSC Ensembl
Outerchr12:122634472..122650552hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3816081
hg1916081
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2664257
Supporting Variants
SamplesNA19982
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5653357
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