A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669393



Internal ID9588812
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:160228650..160233925hg38UCSC Ensembl
chr6:160649682..160654957hg19UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg385276
hg195276
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6456049, essv6482609, essv5715350, essv6292559, essv6248644, essv5592473, essv5900241, essv6004820
SamplesNA19461, NA19429, NA19457, NA19360, NA19377, NA19332, NA20289, NA19130
Known GenesSLC22A2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669393
Frequency
Sample Size1151
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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