A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2452n54



Internal ID22770347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:30080517..30090540hg38UCSC Ensembl
chr12:30233450..30243473hg19UCSC Ensembl
chr12:30124717..30134740hg18UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg3810024
hg1910024
hg1810024
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv557985, nsv557983, nsv557984, nsv557982
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2452n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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