A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1096e214



Internal ID20122519
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 Variants
Supporting Variantsesv3604855, esv3604854
SamplesHG02716, NA12717
Known GenesC5orf51, FBXO4, OXCT1, OXCT1-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv1096e214
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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