A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668463



Internal ID9934568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:209681473..209683407hg38UCSC Ensembl
chr1:209854818..209856752hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg381935
hg191935
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6210003, essv5503330
SamplesNA19060, NA19074
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668463
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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