A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13054189



Internal ID2858402
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:333678..391240hg38UCSC Ensembl
chr8:283678..341240hg19UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg3857563
hg1957563
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3615781
Supporting Variants
SamplesHG02536
Known GenesFAM87A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13054189
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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