A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1009207



Internal ID6721311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:105045528..105049124hg38UCSC Ensembl
Innerchr2:105661986..105665582hg19UCSC Ensembl
Innerchr2:105028418..105032014hg18UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg383597
hg193597
hg183597
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv85e180
Supporting Variantsessv3587225
SamplesHuRef
Known GenesMRPS9
MethodOligo aCGH
Analysis
PlatformNot Submitted
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1009207
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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