A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668068



Internal ID9934173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:26256921..26260087hg38UCSC Ensembl
Outerchr12:26256884..26260137hg38UCSC Ensembl
Innerchr12:26409854..26413020hg19UCSC Ensembl
Outerchr12:26409817..26413070hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg383254
hg193254
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5628252
SamplesHG00475
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668068
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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