A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979090



Internal ID12632934
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:271245..275926hg38UCSC Ensembl
Innerchr12:380411..385092hg19UCSC Ensembl
Innerchr12:250672..255353hg18UCSC Ensembl
Innerchr12:250672..255353hg17UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg384682
hg194682
hg184682
hg174682
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34939
Supporting Variants
SamplesNA12891
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979090
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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