A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1005832



Internal ID7070926
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:211509..211955hg38UCSC Ensembl
chr5:211624..212070hg19UCSC Ensembl
chr5:264624..265070hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38447
hg19447
hg18447
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3571077
SamplesHuRef
Known GenesCCDC127
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1005832
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