A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659441



Internal ID9578860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:152155609..152156221hg38UCSC Ensembl
chr1:152128085..152128697hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38613
hg19613
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5740164
SamplesNA20542
Known GenesRPTN
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659441
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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