A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659278



Internal ID9578697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:111073219..111074903hg38UCSC Ensembl
Outerchr12:111073062..111075096hg38UCSC Ensembl
Innerchr12:111511023..111512707hg19UCSC Ensembl
Outerchr12:111510866..111512900hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg382035
hg192035
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6354694, essv5426630, essv6046690, essv6256542, essv5725509
SamplesNA19248, NA19451, NA18873, NA19463, NA18853
Known GenesCUX2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659278
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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