A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3604855



Internal ID6645105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:41870414..41961760hg38UCSC Ensembl
chr5:41870516..41961862hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg3891347
hg1991347
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1096e214
Supporting Variantsessv11882083
SamplesHG02716
Known GenesC5orf51, FBXO4, OXCT1, OXCT1-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3604855
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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