A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2730n54



Internal ID22770625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:81736586..81753708hg38UCSC Ensembl
chr12:82130365..82147487hg19UCSC Ensembl
chr12:80654496..80671618hg18UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3817123
hg1917123
hg1817123
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv559478, nsv559482, nsv559480, nsv559479, nsv559481
Samples
Known GenesPPFIA2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2730n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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