A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2422188



Internal ID8252971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:125142819..125614149hg38UCSC Ensembl
Innerchr7:124782873..125254203hg19UCSC Ensembl
Innerchr7:124570109..125041439hg18UCSC Ensembl
Innerchr7:124376824..124848154hg17UCSC Ensembl
Cytoband7q31.33
Allele length
AssemblyAllele length
hg38471331
hg19471331
hg18471331
hg17471331
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5161441
SamplesND04586
Known Genes
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)esv2422188
Frequency
Sample Size181
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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