A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv63e55



Internal ID20126542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:31072776..31360784hg38UCSC Ensembl
chr12:31225710..31513718hg19UCSC Ensembl
chr12:31116977..31404985hg18UCSC Ensembl
chr12:31116977..31404985hg17UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38288009
hg19288009
hg18288009
hg17288009
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2751077, esv2751072, esv2751054, esv2751053, esv35092, esv2751071
SamplesBEC_444, BEC_693, NA19119, BEC_694, BEC_676, BEC_613
Known GenesDDX11, DDX11-AS1, FAM60A, FLJ13224
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)dgv63e55
Frequency
Sample Size771
Observed Gain14
Observed Loss0
Observed Complex0
Frequencyn/a


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