A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13226138



Internal ID1067242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:74074474..74091870hg38UCSC Ensembl
chr8:74986709..75004105hg19UCSC Ensembl
Cytoband8q21.11
Allele length
AssemblyAllele length
hg3817397
hg1917397
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617646
Supporting Variants
SamplesHG00692
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13226138
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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