A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987142



Internal ID12631296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:44742146..44846946hg38UCSC Ensembl
Innerchr10:45237594..45342394hg19UCSC Ensembl
Innerchr10:44557600..44662400hg18UCSC Ensembl
Innerchr10:44557600..44662400hg17UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg38104801
hg19104801
hg18104801
hg17104801
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2750894
Supporting Variants
SamplesBEC_830
Known GenesTMEM72-AS1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6987142
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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