A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606685



Internal ID6993620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:126633286..126768448hg38UCSC Ensembl
chr5:125968978..126104140hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg38135163
hg19135163
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12050704
SamplesNA20758
Known GenesC5orf48
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606685
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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