A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5161542



Internal ID8252845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:12699666..12843925hg38UCSC Ensembl
Innerchr7:12739291..12883550hg19UCSC Ensembl
Innerchr7:12705816..12850075hg18UCSC Ensembl
Innerchr7:12512531..12656790hg17UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg38144260
hg19144260
hg18144260
hg17144260
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2422346
Supporting Variants
SamplesND03836
Known Genes
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)essv5161542
Frequency
Sample Size181
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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