A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2595n54



Internal ID22770490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:40761198..40821046hg38UCSC Ensembl
chr12:41155000..41214848hg19UCSC Ensembl
chr12:39441267..39501115hg18UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3859849
hg1959849
hg1859849
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv558697, nsv558698
Samples
Known GenesCNTN1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2595n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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