A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3641815



Internal ID6681897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:11840726..11854124hg38UCSC Ensembl
chr18:11840725..11854123hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg3813399
hg1913399
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15809832
SamplesHG03567
Known GenesCHMP1B, GNAL
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3641815
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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