A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669084



Internal ID9935189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:28701294..28707749hg38UCSC Ensembl
Outerchr12:28701257..28707799hg38UCSC Ensembl
Innerchr12:28854227..28860682hg19UCSC Ensembl
Outerchr12:28854190..28860732hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg386543
hg196543
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5546936
SamplesNA19082
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669084
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