A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2422512



Internal ID8253295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:4195116..4269720hg38UCSC Ensembl
Innerchr8:4052638..4127242hg19UCSC Ensembl
Innerchr8:4040046..4114650hg18UCSC Ensembl
Innerchr8:4040046..4114650hg17UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg3874605
hg1974605
hg1874605
hg1774605
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5161403
SamplesND03938
Known GenesCSMD1
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)esv2422512
Frequency
Sample Size181
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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