A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15860094



Internal ID3080504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:47544898..47549281hg38UCSC Ensembl
Innerchr18:47544898..47549281hg38UCSC Ensembl
Outerchr18:47544696..47549498hg38UCSC Ensembl
chr18:45071269..45075652hg19UCSC Ensembl
Innerchr18:45071269..45075652hg19UCSC Ensembl
Outerchr18:45071067..45075869hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg384384
hg194384
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642459
Supporting Variants
SamplesHG02702
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15860094
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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