A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672882



Internal ID9938987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:79491456..79493921hg38UCSC Ensembl
chr12:79885236..79887701hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg382466
hg192466
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6436172, essv6225401, essv6197627, essv5691597, essv5898039, essv6300303, essv6173388
SamplesHG01067, HG01072, NA19437, NA19449, NA19256, NA19473, NA19360
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672882
Frequency
Sample Size1151
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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