A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5161424



Internal ID7906138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:464320..1066079hg38UCSC Ensembl
Innerchr2:464320..1061765hg19UCSC Ensembl
Innerchr2:454320..1051765hg18UCSC Ensembl
Innerchr2:454320..1051765hg17UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg38601760
hg19597446
hg18597446
hg17597446
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2422306
Supporting Variants
SamplesND03527
Known GenesLINC01115, SNTG2, TMEM18
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)essv5161424
Frequency
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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