A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1088e199



Internal ID20124390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:29911996..30009191hg38UCSC Ensembl
chr6:29879773..29976968hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg3897196
hg1997196
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2669973, esv2671253, esv2658161, esv2667078
SamplesHG00127, HG00651, HG00662, NA18564, NA19431, HG00656, HG00704
Known GenesHCG4B, HCG9, HLA-A, HLA-J, ZNRD1-AS1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv1088e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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