A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15794514



Internal ID6521397
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:8569859..8572551hg38UCSC Ensembl
Innerchr18:8569859..8572551hg38UCSC Ensembl
Outerchr18:8569648..8572739hg38UCSC Ensembl
chr18:8569857..8572549hg19UCSC Ensembl
Innerchr18:8569857..8572549hg19UCSC Ensembl
Outerchr18:8569646..8572737hg19UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg382693
hg192693
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641720
Supporting Variants
SamplesNA20542
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15794514
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer