A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667649



Internal ID9933754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:2878303..2882691hg38UCSC Ensembl
chr12:2987469..2991857hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg384389
hg194389
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6479493, essv6119594, essv5766121, essv5944371, essv6386726, essv5792654, essv6317419
SamplesHG01060, NA19313, NA19917, NA18907, NA19712, HG00638, NA19346
Known GenesRHNO1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667649
Frequency
Sample Size1151
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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