A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674517



Internal ID9593936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:59691181..59692355hg38UCSC Ensembl
chr10:61450939..61452113hg19UCSC Ensembl
Cytoband10q21.2
Allele length
AssemblyAllele length
hg381175
hg191175
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6276137, essv5423862, essv6360129
SamplesNA18982, NA19000, NA18999
Known GenesSLC16A9
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674517
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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