A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5161297



Internal ID8252823
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 StatusS
Merged Variantsesv2422432
Supporting Variants
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)essv5161297
Frequency
Sample Size181
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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