A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2422331



Internal ID7906428
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:157663569..158061236hg38UCSC Ensembl
Innerchr7:157456261..157853928hg19UCSC Ensembl
Innerchr7:157149022..157546689hg18UCSC Ensembl
Innerchr7:156955737..157353404hg17UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg38397668
hg19397668
hg18397668
hg17397668
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5161425
SamplesND01580
Known GenesLOC100506585, PTPRN2
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)esv2422331
Frequency
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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