A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3641472



Internal ID6681557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:128077..323706hg38UCSC Ensembl
chr18:128077..323706hg19UCSC Ensembl
Cytoband18p11.32
Allele length
AssemblyAllele length
hg38195630
hg19195630
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15771609, essv15771608
SamplesHG00261, NA11843
Known GenesCOLEC12, THOC1, USP14
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3641472
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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