A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5689057



Internal ID8666460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:212297793..212299274hg38UCSC Ensembl
chr1:212471135..212472616hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg381482
hg191482
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2671226
Supporting Variants
SamplesNA20341
Known GenesPPP2R5A
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5689057
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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