A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3617092



Internal ID7003978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:47253772..47303222hg38UCSC Ensembl
chr8:48166364..48224224hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg3849451
hg1957861
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13192247, essv13192249, essv13192248
SamplesHG00355, NA20342, HG00117
Known GenesSPIDR
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3617092
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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