A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659474



Internal ID9925579
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:244516665..244517951hg38UCSC Ensembl
chr1:244679967..244681253hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg381287
hg191287
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5586788, essv5578698, essv5504491, essv5961978, essv5681111
SamplesNA19359, NA19457, NA18856, NA19452, NA19428
Known GenesC1orf101
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659474
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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