A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14766418



Internal ID2642059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:61935272..62098532hg38UCSC Ensembl
chr13:62509405..62672665hg19UCSC Ensembl
Cytoband13q21.31
Allele length
AssemblyAllele length
hg38163261
hg19163261
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632348
Supporting Variants
SamplesHG02337
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14766418
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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