A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14909157



Internal ID6033375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:113785966..113797000hg38UCSC Ensembl
chr13:114488939..114499973hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3811035
hg1911035
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633619
Supporting Variants
SamplesNA19438
Known GenesTMEM255B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14909157
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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