A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv680e199



Internal ID22758453
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:11878875..11882832hg38UCSC Ensembl
chr2:12019001..12022958hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg383958
hg193958
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2677561, esv2656723
SamplesNA12058, HG00148, NA19917, HG00133, HG00280
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv680e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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