A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2661878



Internal ID9581297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:48309101..48314157hg38UCSC Ensembl
chr3:48350591..48355647hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg385057
hg195057
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5627641
SamplesHG00278
Known GenesSPINK8
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2661878
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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