A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15989152



Internal ID3656851
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:8366946..8383577hg38UCSC Ensembl
chr19:8431830..8448461hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3816632
hg1916632
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643616
Supporting Variants
SamplesHG03258
Known GenesANGPTL4, RAB11B-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15989152
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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