A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3644741



Internal ID6684805
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16089203
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)esv3644741
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