A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16089203



Internal ID6091019
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:53154414..53309299hg38UCSC Ensembl
chr19:53657667..53812552hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38154886
hg19154886
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644741
Supporting Variants
SamplesHG02308
Known GenesBIRC8, FAM90A27P, VN1R2, VN1R4, ZNF347, ZNF665, ZNF677, ZNF818P
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16089203
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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