A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2661795



Internal ID9927900
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:172790152..172792851hg38UCSC Ensembl
chr1:172759292..172761991hg19UCSC Ensembl
Cytoband1q24.3
Allele length
AssemblyAllele length
hg382700
hg192700
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5488992, essv5605920, essv5692229
SamplesNA19396, NA19468, NA18505
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2661795
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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