A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672518



Internal ID9591937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:964412..970110hg38UCSC Ensembl
Outerchr12:964375..970165hg38UCSC Ensembl
Innerchr12:1073578..1079276hg19UCSC Ensembl
Outerchr12:1073541..1079331hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg385791
hg195791
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv255e199
Supporting Variantsessv5440681, essv5665549, essv6121117
SamplesNA19466, NA19332, NA19818
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672518
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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