A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676423



Internal ID9595842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:64977641..65405798hg38UCSC Ensembl
chr1:65443324..65871481hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38428158
hg19428158
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5415903
SamplesNA12340
Known GenesAK4, DNAJC6, MIR101-1, MIR3671
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676423
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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