A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3604854



Internal ID6645104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:41866397..41966396hg38UCSC Ensembl
chr5:41866499..41966498hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg38100000
hg19100000
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1096e214
Supporting Variantsessv11882081, essv11882082
SamplesNA12717, HG02716
Known GenesC5orf51, FBXO4, OXCT1, OXCT1-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3604854
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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