A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677467



Internal ID9596886
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:111661538..111664111hg38UCSC Ensembl
chr1:112204160..112206733hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg382574
hg192574
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6486476
SamplesNA20805
Known GenesRAP1A
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677467
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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