A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987611



Internal ID12630460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31072799..31253999hg38UCSC Ensembl
Innerchr12:31225733..31406933hg19UCSC Ensembl
Innerchr12:31117000..31298200hg18UCSC Ensembl
Innerchr12:31117000..31298200hg17UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38181201
hg19181201
hg18181201
hg17181201
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751051
Supporting Variants
SamplesBEC_715
Known GenesDDX11, DDX11-AS1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6987611
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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