A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6980674



Internal ID12625125
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31128312..31261539hg38UCSC Ensembl
Innerchr12:31281246..31414473hg19UCSC Ensembl
Innerchr12:31172513..31305740hg18UCSC Ensembl
Innerchr12:31172513..31305740hg17UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38133228
hg19133228
hg18133228
hg17133228
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751069
Supporting Variants
SamplesBEC_104
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6980674
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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