A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv197n100



Internal ID22786284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:76226372..76258967hg38UCSC Ensembl
chr1:76692057..76724652hg19UCSC Ensembl
chr1:76464645..76497240hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3832596
hg1932596
hg1832596
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1001452, nsv1008763
Samples
Known GenesST6GALNAC3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv197n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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