A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15771561



Internal ID4042814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:40598..87399hg38UCSC Ensembl
chr18:40598..87399hg19UCSC Ensembl
Cytoband18p11.32
Allele length
AssemblyAllele length
hg3846802
hg1946802
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641464
Supporting Variants
SamplesHG03690
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15771561
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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