A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15903256



Internal ID3710366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:62490969..62492306hg38UCSC Ensembl
Innerchr18:62490969..62492306hg38UCSC Ensembl
Outerchr18:62490858..62492497hg38UCSC Ensembl
chr18:60158202..60159539hg19UCSC Ensembl
Innerchr18:60158202..60159539hg19UCSC Ensembl
Outerchr18:60158091..60159730hg19UCSC Ensembl
Cytoband18q21.33
Allele length
AssemblyAllele length
hg381338
hg191338
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642750
Supporting Variants
SamplesHG03311
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15903256
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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