A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987411



Internal ID12978698
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:110496400..110691400hg38UCSC Ensembl
Innerchr5:109832101..110027101hg19UCSC Ensembl
Innerchr5:109860000..110055000hg18UCSC Ensembl
Innerchr5:109860000..110055000hg17UCSC Ensembl
Cytoband5q22.1
Allele length
AssemblyAllele length
hg38195001
hg19195001
hg18195001
hg17195001
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34732
Supporting Variants
SamplesNA11882
Known GenesTMEM232
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6987411
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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