A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15857774



Internal ID6182240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:45826489..45826825hg38UCSC Ensembl
Innerchr18:45826492..45826823hg38UCSC Ensembl
Outerchr18:45826487..45826828hg38UCSC Ensembl
chr18:43406454..43406790hg19UCSC Ensembl
Innerchr18:43406457..43406788hg19UCSC Ensembl
Outerchr18:43406452..43406793hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg38337
hg19337
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642417
Supporting Variants
SamplesNA19717
Known GenesSIGLEC15
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15857774
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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