A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14256314



Internal ID591224
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:103065903..103212201hg38UCSC Ensembl
chr11:102936632..103082930hg19UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg38146299
hg19146299
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3627546
Supporting Variants
SamplesHG00259
Known GenesDCUN1D5, DYNC2H1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14256314
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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