A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663158



Internal ID9929263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:224136551..224139571hg38UCSC Ensembl
chr1:224324253..224327273hg19UCSC Ensembl
Cytoband1q42.11
Allele length
AssemblyAllele length
hg383021
hg193021
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6157066, essv5962419, essv6478164, essv6485363, essv5644652, essv6214227, essv5741926, essv5445649, essv6246792, essv5756274
SamplesNA19359, HG01067, NA19462, NA19982, NA19318, NA19625, NA19401, NA19102, NA19116, NA19463
Known GenesFBXO28
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663158
Frequency
Sample Size1151
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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