A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3587225



Internal ID6711921
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 OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1009207
Supporting Variants
SamplesHuRef
Known GenesMRPS9
MethodOligo aCGH
Analysis
PlatformNot Submitted
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3587225
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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