A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1336n100



Internal ID22787423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:754667..767200hg38UCSC Ensembl
chr12:863833..876366hg19UCSC Ensembl
chr12:734094..746627hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3812534
hg1912534
hg1812534
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1044046, nsv1040434, nsv1052771, nsv1035947
Samples
Known GenesWNK1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1336n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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