A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1944n100



Internal ID20153560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:80646823..80690503hg38UCSC Ensembl
chr14:81113167..81156847hg19UCSC Ensembl
chr14:80182920..80226600hg18UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg3843681
hg1943681
hg1843681
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1051964, nsv1039554
Samples
Known GenesCEP128
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1944n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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