A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659315



Internal ID9925420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:104225682..104227636hg38UCSC Ensembl
chr12:104619460..104621414hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg381955
hg191955
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5410581
SamplesNA19901
Known GenesTXNRD1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659315
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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