A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3586305



Internal ID6711001
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 OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1000525
Supporting Variants
SamplesHuRef
Known GenesMRPS9
MethodOligo aCGH
Analysis
PlatformNot Submitted
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3586305
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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