A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1010993



Internal ID36696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:148964796..149003081hg38UCSC Ensembl
Outerchr1:144881391..144919679hg19UCSC Ensembl
Outerchr1:143592748..143631036hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3838286
hg1938289
hg1838289
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564189
SamplesHuRef
Known GenesLOC100288142, NBPF12, NBPF9, PDE4DIP
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1010993
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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