A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5161444



Internal ID8252743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:123525129..123601142hg38UCSC Ensembl
Innerchr12:124009676..124085689hg19UCSC Ensembl
Innerchr12:122575629..122651642hg18UCSC Ensembl
Innerchr12:122534556..122610569hg17UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3876014
hg1976014
hg1876014
hg1776014
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2422416
Supporting Variants
SamplesND01703
Known GenesMIR3908, RILPL1, TMED2
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)essv5161444
Frequency
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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