A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1081e199



Internal ID22758854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:24324217..24328464hg38UCSC Ensembl
chr6:24324445..24328692hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg384248
hg194248
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2662234, esv2665507
SamplesNA18621, NA18592, HG00187, NA18526, NA18633, NA18602, NA18627, NA18558, NA18618, NA18571, HG00185, HG00277, NA18560, NA18617, HG00309, HG00338, NA18605, NA18613, HG00328, NA18572, NA18534, HG00284, NA18570, NA18593, NA18608, NA18632, NA18559, NA18628, HG00375, HG00342, NA18636, HG00274, NA18577
Known GenesDCDC2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv1081e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss33
Observed Complex0
Frequencyn/a


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