A curated catalogue of human genomic structural variation




Variant Details

Variant: esv989430



Internal ID6725398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:10090867..10099022hg38UCSC Ensembl
Outerchr4:10092491..10100646hg19UCSC Ensembl
Outerchr4:9701589..9709744hg18UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg388156
hg198156
hg188156
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565524
SamplesHuRef
Known GenesWDR1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv989430
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