A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3642441



Internal ID7029211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:46705947..46755272hg38UCSC Ensembl
chr18:44285910..44335235hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg3849326
hg1949326
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15857883, essv15857880, essv15857882, essv15857881, essv15857879
SamplesHG04212, HG03738, HG03837, HG03978, HG03743
Known GenesST8SIA5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3642441
Frequency
Sample Size2504
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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