A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983143



Internal ID12974891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:85579245..85633982hg38UCSC Ensembl
Innerchr12:85973023..86027760hg19UCSC Ensembl
Innerchr12:84497154..84551891hg18UCSC Ensembl
Innerchr12:84475491..84530228hg17UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3854738
hg1954738
hg1854738
hg1754738
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751125
Supporting Variants
SamplesBEC_547
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6983143
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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