A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606674



Internal ID6993609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:126333314..126349704hg38UCSC Ensembl
chr5:125669006..125685396hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg3816391
hg1916391
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12050651
SamplesHG03121
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606674
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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