A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2434n54



Internal ID22770329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:28350789..28452493hg38UCSC Ensembl
chr12:28503722..28605426hg19UCSC Ensembl
chr12:28394989..28496693hg18UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg38101705
hg19101705
hg18101705
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv557877, nsv557878
Samples
Known GenesCCDC91
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2434n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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