A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987023



Internal ID12634691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:110076984..110222769hg38UCSC Ensembl
Innerchr2:110834561..110980346hg19UCSC Ensembl
Innerchr2:110191850..110337635hg18UCSC Ensembl
Innerchr2:110191936..110337721hg17UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38145786
hg19145786
hg18145786
hg17145786
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34912
Supporting Variants
SamplesNA18966
Known GenesLINC00116, MALL, MIR4436B1, MIR4436B2, NPHP1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6987023
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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