A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665620



Internal ID9931725
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:65179557..65182419hg38UCSC Ensembl
chr8:66091792..66094654hg19UCSC Ensembl
Cytoband8q13.1
Allele length
AssemblyAllele length
hg382863
hg192863
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1290e199
Supporting Variantsessv6385434, essv6048356, essv5564132, essv5527505, essv6503174, essv5994429, essv6495790, essv5738349, essv5843252, essv5650983, essv5568600, essv5948489, essv5695033, essv6157653, essv5502843, essv6311237, essv6478952, essv5691960, essv5716207, essv5930504, essv6526367, essv6308354, essv6200038, essv5760437, essv6027677, essv5631156, essv5491962, essv5956885, essv5871561, essv5819711, essv5859074, essv6277961, essv6288551, essv6224952, essv6313458, essv5888013
SamplesNA18502, NA18924, NA18504, NA18870, NA18510, NA19171, NA19198, NA19131, NA19197, NA19138, NA19130, NA19207, NA19189, NA18908, NA18867, NA19247, NA19152, NA18933, NA19236, NA18516, NA18910, NA19114, NA18499, NA18912, NA18853, NA19099, NA19257, NA19225, NA18858, NA19144, NA18501, NA19223, NA19102, NA18873, NA19116, NA18522
Known GenesLINC00251
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665620
Frequency
Sample Size1151
Observed Gain0
Observed Loss36
Observed Complex0
Frequencyn/a


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