A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3564483



Internal ID6689179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:10416138..10418529hg38UCSC Ensembl
Outerchr1:10476195..10478586hg19UCSC Ensembl
Outerchr1:10398782..10401173hg18UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg382392
hg192392
hg182392
Variant TypeCNV deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1010529
Supporting Variants
SamplesHuRef
Known GenesPGD
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3564483
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