A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15869687



Internal ID5426955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:51657967..51684167hg38UCSC Ensembl
Innerchr18:51658467..51683667hg38UCSC Ensembl
Outerchr18:51656967..51685167hg38UCSC Ensembl
chr18:49184337..49210537hg19UCSC Ensembl
Innerchr18:49184837..49210037hg19UCSC Ensembl
Outerchr18:49183337..49211537hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg3826201
hg1926201
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642528
Supporting Variants
SamplesNA18953
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15869687
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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