A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv57e55



Internal ID20126536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:7700916..7963472hg38UCSC Ensembl
chr12:7853512..8116068hg19UCSC Ensembl
chr12:7744779..8007335hg18UCSC Ensembl
chr12:7744779..8007335hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38262557
hg19262557
hg18262557
hg17262557
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv34893, esv2751112
SamplesBEC_53, NA12239
Known GenesCLEC4C, DPPA3, NANOG, NANOGNB, SLC2A14, SLC2A3
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)dgv57e55
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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