A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1006571



Internal ID6718688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:53113217..53113534hg38UCSC Ensembl
chr19:53616470..53616787hg19UCSC Ensembl
chr19:58308282..58308599hg18UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg38318
hg19318
hg18318
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3572578
SamplesHuRef
Known GenesZNF415
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1006571
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer