A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664717



Internal ID9930822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:61518408..61521816hg38UCSC Ensembl
chr18:59185641..59189049hg19UCSC Ensembl
Cytoband18q21.33
Allele length
AssemblyAllele length
hg383409
hg193409
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5986381, essv6288018, essv6313954, essv6398422, essv6038009, essv5550059, essv5884588, essv6515583, essv5592750, essv6132395, essv6244575, essv6433632, essv5796651, essv6047308, essv5951748, essv5586715, essv6139385, essv5520796, essv6313490, essv5460921, essv6505072
SamplesNA19664, NA18508, HG00187, NA19904, HG00281, HG00106, NA06984, HG00325, NA19917, HG00137, NA19391, NA19982, NA18912, NA19469, HG01107, HG01204, NA19108, NA19473, NA12154, HG00553, NA19431
Known GenesCDH20
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664717
Frequency
Sample Size1151
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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