A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2662691



Internal ID9582110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:4602824..4610454hg38UCSC Ensembl
chr3:4644508..4652138hg19UCSC Ensembl
Cytoband3p26.1
Allele length
AssemblyAllele length
hg387631
hg197631
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6454074, essv6225438, essv6016059, essv6530770
SamplesHG00274, HG00332, HG00176, HG00312
Known GenesITPR1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2662691
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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