A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13074952



Internal ID5565054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:4937983..5305497hg38UCSC Ensembl
chr8:4795505..5163019hg19UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg38367515
hg19367515
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616014
Supporting Variants
SamplesNA19012
Known GenesCSMD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13074952
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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