A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2729n54



Internal ID22770624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:81728109..81754679hg38UCSC Ensembl
chr12:82121888..82148458hg19UCSC Ensembl
chr12:80646019..80672589hg18UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3826571
hg1926571
hg1826571
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv559473, nsv559474, nsv559472, nsv559469, nsv559477, nsv559471, nsv559475, nsv559470, nsv559476
Samples
Known GenesPPFIA2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2729n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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