A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657597



Internal ID9577016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:46587436..46597048hg38UCSC Ensembl
chr12:46981219..46990831hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg389613
hg199613
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6250657, essv5783612, essv6338037, essv6527882, essv5796609, essv5999291, essv6299630, essv6192429, essv6524431
SamplesNA19072, HG00479, NA18622, NA18636, HG00584, HG00672, NA18614, HG00626, HG00671
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657597
Frequency
Sample Size1151
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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