A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv613e214



Internal ID20122036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:45815434..45846664hg38UCSC Ensembl
chr18:43395399..43426629hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg3831231
hg1931231
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3642415, esv3642416
SamplesNA19909, HG03118
Known GenesSIGLEC15
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv613e214
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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