A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11882081



Internal ID1883897
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3604854
Supporting Variants
SamplesHG02716
Known GenesC5orf51, FBXO4, OXCT1, OXCT1-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11882081
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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