A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13984818



Internal ID3986634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:133534531..133564756hg38UCSC Ensembl
chr10:135348035..135378260hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg3830226
hg1930226
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3625053
Supporting Variants
SamplesHG01973
Known GenesCYP2E1, SYCE1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13984818
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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