A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3618248



Internal ID7005131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:103119847..103123352hg38UCSC Ensembl
chr8:104132075..104135580hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg383506
hg193506
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13271441, essv13271439, essv13271440
SamplesHG04020, HG02502, HG01868
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3618248
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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