A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3617775



Internal ID7004660
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:80268872..80272268hg38UCSC Ensembl
chr8:81181107..81184503hg19UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg383397
hg193397
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13238938, essv13238939, essv13238941, essv13238940
SamplesHG02375, HG01455, HG02646, NA20503
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3617775
Frequency
Sample Size2504
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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