A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5423862



Internal ID8401265
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 Flag1
Merged StatusS
Merged Variantsesv2674517
Supporting Variants
SamplesNA18982
Known GenesSLC16A9
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5423862
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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