A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3642750



Internal ID7029519
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15903259, essv15903256, essv15903254, essv15903255, essv15903258, essv15903257
SamplesHG03099, HG03583, NA18934, HG03311, NA19360, HG01912
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3642750
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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