A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5453657



Internal ID8431060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:24936026..24978945hg38UCSC Ensembl
Outerchr12:24935989..24978995hg38UCSC Ensembl
Innerchr12:25088960..25131879hg19UCSC Ensembl
Outerchr12:25088923..25131929hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg3843007
hg1943007
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2667659
Supporting Variants
SamplesNA12046
Known GenesBCAT1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5453657
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