A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13194976



Internal ID2996951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:48962461..48975013hg38UCSC Ensembl
chr8:49875020..49887572hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg3812553
hg1912553
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617131
Supporting Variants
SamplesHG02645
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13194976
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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