A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15857771



Internal ID5859587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:45815434..45846162hg38UCSC Ensembl
Innerchr18:45815584..45846012hg38UCSC Ensembl
Outerchr18:45815284..45846312hg38UCSC Ensembl
chr18:43395399..43426127hg19UCSC Ensembl
Innerchr18:43395549..43425977hg19UCSC Ensembl
Outerchr18:43395249..43426277hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg3830729
hg1930729
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642415
Supporting Variants
SamplesHG03118
Known GenesSIGLEC15
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15857771
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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