A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663895



Internal ID9930000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:46396223..46397246hg38UCSC Ensembl
chr3:46437714..46438737hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg381024
hg191024
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6364108, essv5864705
SamplesNA20281, NA19713
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663895
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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