A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979147



Internal ID12979683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:141459911..141481343hg38UCSC Ensembl
Innerchr2:142217480..142238912hg19UCSC Ensembl
Innerchr2:141933950..141955382hg18UCSC Ensembl
Innerchr2:142051212..142072644hg17UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg3821433
hg1921433
hg1821433
hg1721433
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34823
Supporting Variants
SamplesNA18500
Known GenesLRP1B
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979147
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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