A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1528n100



Internal ID22787615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:74203631..74293883hg38UCSC Ensembl
chr12:74597411..74687663hg19UCSC Ensembl
chr12:72883678..72973930hg18UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg3890253
hg1990253
hg1890253
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1048747, nsv1053421, nsv1047574
Samples
Known GenesLOC100507377
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1528n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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