A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14767345



Internal ID2642137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:62040021..62068623hg38UCSC Ensembl
chr13:62614154..62642756hg19UCSC Ensembl
Cytoband13q21.31
Allele length
AssemblyAllele length
hg3828603
hg1928603
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632358
Supporting Variants
SamplesHG02337
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14767345
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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