A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674226



Internal ID9940331
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:46096714..46097728hg38UCSC Ensembl
chr18:43676680..43677694hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg381015
hg191015
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv594e199
Supporting Variantsessv6051825, essv5422149, essv5949746, essv5435272, essv5443498, essv6568328, essv5995666, essv5733288, essv6464947, essv6010943, essv6135881, essv5460934, essv5825632, essv5735534, essv6052858, essv6513947, essv5740742, essv6165229
SamplesNA18530, NA18940, NA18571, NA18949, HG00543, HG00629, HG00596, NA19000, HG00704, NA18546, HG00611, NA18543, NA19083, NA18636, HG00698, NA19063, NA19074, NA18620
Known GenesATP5A1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674226
Frequency
Sample Size1151
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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