A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658217



Internal ID9924322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:12261216..12263371hg38UCSC Ensembl
chr12:12414150..12416305hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg382156
hg192156
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6118501
SamplesNA19661
Known GenesLRP6
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658217
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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