A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3644612



Internal ID6684678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:49053145..49063396hg38UCSC Ensembl
Innerchr19:49053295..49063246hg38UCSC Ensembl
Outerchr19:49052995..49063546hg38UCSC Ensembl
chr19:49556402..49566653hg19UCSC Ensembl
Innerchr19:49556552..49566503hg19UCSC Ensembl
Outerchr19:49556252..49566803hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3810252
hg1910252
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16075086
SamplesNA18991
Known GenesCGB7, NTF4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3644612
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