A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988458



Internal ID12974027
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:45621704..45649830hg38UCSC Ensembl
Innerchr12:46015487..46043613hg19UCSC Ensembl
Innerchr12:44301754..44329880hg18UCSC Ensembl
Innerchr12:44301754..44329880hg17UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3828127
hg1928127
hg1828127
hg1728127
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751099
Supporting Variants
SamplesBEC_493
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6988458
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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