A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2662504



Internal ID9581923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:124339050..124339499hg38UCSC Ensembl
Outerchr12:124339013..124339549hg38UCSC Ensembl
Innerchr12:124823596..124824045hg19UCSC Ensembl
Outerchr12:124823559..124824095hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38537
hg19537
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6467295, essv6492947, essv5540664
SamplesNA19321, NA19401, NA19391
Known GenesNCOR2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2662504
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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