A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3388466



Internal ID15235433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:431152..434850hg38UCSC Ensembl
Innerchr19:432152..433850hg38UCSC Ensembl
Outerchr19:430152..435850hg38UCSC Ensembl
chr19:431152..434850hg19UCSC Ensembl
Innerchr19:432152..433850hg19UCSC Ensembl
Outerchr19:430152..435850hg19UCSC Ensembl
chr19:382152..385850hg18UCSC Ensembl
Innerchr19:383152..384850hg18UCSC Ensembl
Outerchr19:381152..386850hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg383699
hg193699
hg183699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1966e59
Supporting Variantsessv8691511
SamplesNA19239
Known GenesSHC2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3388466
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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