A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667216



Internal ID9933321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:131118267..131125093hg38UCSC Ensembl
chr3:130837111..130843937hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg386827
hg196827
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6174941
SamplesNA19347
Known GenesNEK11
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667216
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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