A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2660667



Internal ID9926772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:118843886..118848721hg38UCSC Ensembl
chr6:119165049..119169884hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg384836
hg194836
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5637238, essv6137043, essv5815231, essv5447875, essv5622411, essv5902007, essv6358127
SamplesNA19381, NA18916, NA18874, NA19235, NA19403, NA19114, NA18505
Known GenesMCM9
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2660667
Frequency
Sample Size1151
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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