A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3641553



Internal ID7028327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:2239686..2432003hg38UCSC Ensembl
chr18:2239686..2432002hg19UCSC Ensembl
Cytoband18p11.32
Allele length
AssemblyAllele length
hg38192318
hg19192317
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15777149, essv15777147, essv15777148
SamplesNA20858, HG00620, HG02398
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3641553
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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