A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3605246



Internal ID6992269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:62697992..62720785hg38UCSC Ensembl
chr5:61993819..62016612hg19UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg3822794
hg1922794
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11928638, essv11928637
SamplesHG02391, HG02179
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3605246
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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