A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673947



Internal ID9940052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:108889248..108890405hg38UCSC Ensembl
chr6:109210451..109211608hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg381158
hg191158
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5655508, essv5541957, essv5828778, essv6240745, essv5874978, essv6226332, essv6110582, essv6041077, essv6438316, essv5806388
SamplesNA18967, NA19379, NA19152, NA19391, NA12892, NA19225, NA19435, NA06994, NA19093, NA12776
Known GenesARMC2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673947
Frequency
Sample Size1151
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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