A curated catalogue of human genomic structural variation




Variant Details

Variant: esv999428



Internal ID7064947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:120286659..120324434hg38UCSC Ensembl
Innerchr1:144672443..144710724hg19UCSC Ensembl
Innerchr1:143383800..143422081hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3837776
hg1938282
hg1838282
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3586330
SamplesHuRef
Known GenesLOC100288142, LOC653513, NBPF12, NBPF8, NBPF9
MethodOligo aCGH
Analysis
PlatformNot Submitted
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv999428
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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