A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3605552



Internal ID6645796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:80132660..80139735hg38UCSC Ensembl
chr5:79428483..79435558hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg387076
hg197076
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11953091
SamplesHG02314
Known GenesSERINC5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3605552
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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