A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670487



Internal ID9589906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:29816860..30001630hg38UCSC Ensembl
chr6:29784637..29969407hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg38184771
hg19184771
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5987288, essv5662044, essv5513741
SamplesNA18942, HG01060, NA20528
Known GenesHCG4B, HCG9, HLA-A, HLA-G, HLA-H, ZNRD1-AS1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670487
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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