A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15903417



Internal ID4381690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:62943825..63001777hg38UCSC Ensembl
Innerchr18:62943975..63001627hg38UCSC Ensembl
Outerchr18:62943675..63001927hg38UCSC Ensembl
chr18:60611058..60669010hg19UCSC Ensembl
Innerchr18:60611208..60668860hg19UCSC Ensembl
Outerchr18:60610908..60669160hg19UCSC Ensembl
Cytoband18q21.33
Allele length
AssemblyAllele length
hg3857953
hg1957953
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642758
Supporting Variants
SamplesHG03907
Known GenesPHLPP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15903417
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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