A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2422487



Internal ID8253270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:17011291..17160117hg38UCSC Ensembl
Innerchr2:17192558..17341384hg19UCSC Ensembl
Innerchr2:17056039..17204865hg18UCSC Ensembl
Innerchr2:17114186..17263012hg17UCSC Ensembl
Cytoband2p24.2
Allele length
AssemblyAllele length
hg38148827
hg19148827
hg18148827
hg17148827
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5161541
SamplesND01493
Known Genes
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)esv2422487
Frequency
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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