A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674382



Internal ID9940487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:130031262..130047850hg38UCSC Ensembl
chr2:130788835..130805423hg19UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg3816589
hg1916589
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5930008, essv6133378, essv5449118, essv5983558, essv5967594, essv6549835
SamplesNA19350, NA19379, NA19457, NA19451, NA18873, NA19312
Known GenesFAR2P1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674382
Frequency
Sample Size1151
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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