A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3642440



Internal ID7029210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:46704778..46833888hg38UCSC Ensembl
chr18:44284741..44413851hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg38129111
hg19129111
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv614e214
Supporting Variantsessv15857872, essv15857873, essv15857876, essv15857877, essv15857875, essv15857874, essv15857878, essv15857871
SamplesHG04212, HG03738, HG03837, HG02016, HG02140, HG03978, HG00651, HG03743
Known GenesPIAS2, ST8SIA5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3642440
Frequency
Sample Size2504
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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