A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13300945



Internal ID5917761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:117369793..117404061hg38UCSC Ensembl
chr8:118382032..118416300hg19UCSC Ensembl
Cytoband8q24.11
Allele length
AssemblyAllele length
hg3834269
hg1934269
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618555
Supporting Variants
SamplesNA19328
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13300945
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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