A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3617110



Internal ID7003996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:48069988..48107727hg38UCSC Ensembl
chr8:48982548..49020287hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg3837740
hg1937740
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13192581, essv13192579, essv13192582, essv13192584, essv13192587, essv13192586, essv13192585, essv13192580, essv13192578, essv13192583
SamplesHG02385, HG01031, HG02026, HG02383, HG01816, HG01813, HG02152, HG01804, HG01868, HG01872
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3617110
Frequency
Sample Size2504
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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