A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15869680



Internal ID4227737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:51359125..51370608hg38UCSC Ensembl
Innerchr18:51359625..51370108hg38UCSC Ensembl
Outerchr18:51358125..51371608hg38UCSC Ensembl
chr18:48885495..48896978hg19UCSC Ensembl
Innerchr18:48885995..48896478hg19UCSC Ensembl
Outerchr18:48884495..48897978hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg3811484
hg1911484
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642525
Supporting Variants
SamplesHG03802
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15869680
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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