A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2662284



Internal ID9928389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:49448841..49532906hg38UCSC Ensembl
chr1:49914513..49998578hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg3884066
hg1984066
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6033140, essv5482197, essv5550223, essv5554430, essv5747641, essv6338435, essv5775815, essv5798693, essv5878069, essv6150923, essv5863650, essv6527419
SamplesHG00143, NA12843, NA12413, NA12341, HG00337, HG00173, HG00185, NA19371, HG00159, HG01390, HG00329, HG00310
Known GenesAGBL4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2662284
Frequency
Sample Size1151
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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