A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979166



Internal ID12979730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:141429971..141481343hg38UCSC Ensembl
Innerchr2:142187540..142238912hg19UCSC Ensembl
Innerchr2:141904010..141955382hg18UCSC Ensembl
Innerchr2:142021272..142072644hg17UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg3851373
hg1951373
hg1851373
hg1751373
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34606
Supporting Variants
SamplesNA18501
Known GenesLRP1B
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979166
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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