A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2422286



Internal ID7906383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:6749570..6986820hg38UCSC Ensembl
Innerchr19:6749581..6986831hg19UCSC Ensembl
Innerchr19:6700581..6937831hg18UCSC Ensembl
Innerchr19:6700581..6937831hg17UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38237251
hg19237251
hg18237251
hg17237251
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv14e196
Supporting Variantsessv5161458
SamplesND01205
Known GenesEMR1, EMR4P, SH2D3A, TRIP10, VAV1
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)esv2422286
Frequency
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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