A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1001228



Internal ID6713367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:143284984..143285048hg38UCSC Ensembl
chr5:142664549..142664613hg19UCSC Ensembl
chr5:142644742..142644806hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3865
hg1965
hg1865
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3581726
SamplesHuRef
Known GenesNR3C1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1001228
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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