A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3618588



Internal ID7005470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:119111135..119119534hg38UCSC Ensembl
chr8:120123374..120131773hg19UCSC Ensembl
Cytoband8q24.12
Allele length
AssemblyAllele length
hg388400
hg198400
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13302954, essv13302953, essv13302952
SamplesHG02697, HG04171, HG01583
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3618588
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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