A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3618992



Internal ID7005873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:138778015..138791342hg38UCSC Ensembl
chr8:139790258..139803585hg19UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg3813328
hg1913328
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13351038
SamplesHG01107
Known GenesCOL22A1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3618992
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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