A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2660875



Internal ID9580294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:101158669..101160691hg38UCSC Ensembl
chr4:102079826..102081848hg19UCSC Ensembl
Cytoband4q24
Allele length
AssemblyAllele length
hg382023
hg192023
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6522788, essv5920612
SamplesHG01187, HG01198
Known GenesPPP3CA
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2660875
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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