A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14782229



Internal ID4626177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:67783771..67802272hg38UCSC Ensembl
chr13:68357903..68376404hg19UCSC Ensembl
Cytoband13q21.32
Allele length
AssemblyAllele length
hg3818502
hg1918502
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632568
Supporting Variants
SamplesHG04158
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14782229
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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