A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2660610



Internal ID9580029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:160206718..160217064hg38UCSC Ensembl
chr6:160627750..160638096hg19UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg3810347
hg1910347
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6510379, essv5698383, essv5657134, essv5499543, essv5820670, essv5560425, essv6440602, essv5820656, essv5952096
SamplesNA19819, NA19373, NA19404, HG01171, NA19391, NA19338, NA20773, NA19468, NA19431
Known GenesSLC22A2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2660610
Frequency
Sample Size1151
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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