A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2422464



Internal ID8253247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:57419367..57445954hg38UCSC Ensembl
Innerchr17:55496728..55523315hg19UCSC Ensembl
Innerchr17:52851727..52878314hg18UCSC Ensembl
Innerchr17:52851727..52878314hg17UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg3826588
hg1926588
hg1826588
hg1726588
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5161506
SamplesND04019
Known GenesMSI2
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)esv2422464
Frequency
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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