A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669895



Internal ID9936000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:55407114..55409055hg38UCSC Ensembl
chr2:55634250..55636191hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg381942
hg191942
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6583044, essv5839035, essv6195883
SamplesNA20512, NA19114, NA20522
Known GenesCCDC88A
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669895
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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