A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15835320



Internal ID1052554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:30408135..30471115hg38UCSC Ensembl
Innerchr18:30408635..30470615hg38UCSC Ensembl
Outerchr18:30407135..30472115hg38UCSC Ensembl
chr18:27988101..28051081hg19UCSC Ensembl
Innerchr18:27988601..28050581hg19UCSC Ensembl
Outerchr18:27987101..28052081hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg3862981
hg1962981
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642103
Supporting Variants
SamplesHG00674
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15835320
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