A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674177



Internal ID9593596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:69479166..69480788hg38UCSC Ensembl
chr2:69706298..69707920hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg381623
hg191623
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5501707
SamplesHG00328
Known GenesAAK1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674177
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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