A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2240n54



Internal ID20135664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:45001..77448hg38UCSC Ensembl
chr12:153395..186614hg19UCSC Ensembl
chr12:23656..56875hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3832448
hg1933220
hg1833220
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv556842, nsv556844, nsv556843, nsv556841
Samples
Known GenesIQSEC3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2240n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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