A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13103957



Internal ID3637351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:11623391..11659249hg38UCSC Ensembl
chr8:11480900..11516758hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3835859
hg1935859
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616255
Supporting Variants
SamplesHG03235
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13103957
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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