A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6990304



Internal ID12979358
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31860161..31910068hg38UCSC Ensembl
Innerchr12:32013095..32063002hg19UCSC Ensembl
Innerchr12:31904362..31954269hg18UCSC Ensembl
Innerchr12:31904362..31954269hg17UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3849908
hg1949908
hg1849908
hg1749908
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34926
Supporting Variants
SamplesNA12763
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6990304
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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