A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3643364



Internal ID6683444
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:724133..803706hg38UCSC Ensembl
chr19:724133..803706hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3879574
hg1979574
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15967939, essv15967940, essv15967938
SamplesHG02275, HG01031, HG00867
Known GenesMISP, PALM, PTBP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3643364
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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