A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1007931



Internal ID7073024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:1017277..1025681hg38UCSC Ensembl
Outerchr5:1017392..1025796hg19UCSC Ensembl
Outerchr5:1070392..1078796hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg388405
hg198405
hg188405
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564765
SamplesHuRef
Known GenesNKD2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1007931
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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