A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2422346



Internal ID8253129
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 StatusM
Merged Variants
Supporting Variantsessv5161542
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)esv2422346
Frequency
Sample Size181
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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