A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15778434



Internal ID5780250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:2848283..2849526hg38UCSC Ensembl
Innerchr18:2848286..2849524hg38UCSC Ensembl
Outerchr18:2848281..2849529hg38UCSC Ensembl
chr18:2848281..2849524hg19UCSC Ensembl
Innerchr18:2848284..2849522hg19UCSC Ensembl
Outerchr18:2848279..2849527hg19UCSC Ensembl
Cytoband18p11.32
Allele length
AssemblyAllele length
hg381244
hg191244
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641577
Supporting Variants
SamplesHG01390
Known GenesEMILIN2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15778434
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