A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14910709



Internal ID4912525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:114271244..114331183hg38UCSC Ensembl
chr13:115036719..115096658hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3859940
hg1959940
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633644
Supporting Variants
SamplesHG01440
Known GenesCDC16, CHAMP1, UPF3A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14910709
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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