A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv11e199



Internal ID20123313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:6374403..6385293hg38UCSC Ensembl
chr1:6434463..6445353hg19UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg3810891
hg1910891
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2673327, esv2665730
SamplesHG01140, HG00138, HG00325, HG00159, NA12342, HG00684, HG00246, NA20504
Known GenesACOT7
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv11e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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