A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2260n54



Internal ID20135684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:759691..764839hg38UCSC Ensembl
chr12:868857..874005hg19UCSC Ensembl
chr12:739118..744266hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg385149
hg195149
hg185149
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv556940, nsv556939, nsv556938
Samples
Known GenesWNK1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2260n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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