A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1000525



Internal ID6712667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:105045671..105049099hg38UCSC Ensembl
Innerchr2:105662129..105665557hg19UCSC Ensembl
Innerchr2:105028561..105031989hg18UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg383429
hg193429
hg183429
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv85e180
Supporting Variantsessv3586305
SamplesHuRef
Known GenesMRPS9
MethodOligo aCGH
Analysis
PlatformNot Submitted
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1000525
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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