A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7112359



Internal ID10043955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:105045649..105049134hg38UCSC Ensembl
Outerchr2:105662107..105665592hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg383486
hg193486
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2842792
Supporting Variants
SamplesHuRef
Known GenesMRPS9
MethodSequencing
Analysis
PlatformComplete Genomics
Comments
ReferencePang_et_al_2013b
Pubmed ID24192839
Accession Number(s)essv7112359
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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