A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1004968



Internal ID30671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:148857356..148857678hg38UCSC Ensembl
chr1:145026736..145027058hg19UCSC Ensembl
chr1:143738093..143738415hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38323
hg19323
hg18323
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3572301
SamplesHuRef
Known GenesLOC100288142, NBPF12, NBPF9, PDE4DIP
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1004968
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