A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3605n54



Internal ID20137029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:30889171..30944286hg38UCSC Ensembl
chr14:31358377..31413492hg19UCSC Ensembl
chr14:30428128..30483243hg18UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg3855116
hg1955116
hg1855116
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv564175, nsv564173, nsv564176, nsv564174
Samples
Known GenesCOCH, LOC100506071, STRN3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv3605n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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