A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2422420



Internal ID7906517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:210752..1113141hg38UCSC Ensembl
Innerchr17:60543..1016381hg19UCSC Ensembl
Innerchr17:60543..963131hg18UCSC Ensembl
Innerchr17:60543..963131hg17UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38902390
hg19955839
hg18902589
hg17902589
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5161354
SamplesND01666
Known GenesABR, C17orf97, DBIL5P, FAM101B, FAM57A, GEMIN4, GLOD4, LOC100506388, MIR3183, NXN, RNMTL1, RPH3AL, TIMM22, VPS53
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)esv2422420
Frequency
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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