A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2422432



Internal ID8253215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:72356173..72682968hg38UCSC Ensembl
Innerchr1:72821856..73148651hg19UCSC Ensembl
Innerchr1:72594444..72921239hg18UCSC Ensembl
Innerchr1:72533877..72860672hg17UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38326796
hg19326796
hg18326796
hg17326796
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5161297
SamplesND03704
Known Genes
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)esv2422432
Frequency
Sample Size181
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer