A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1927n100



Internal ID20153543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:66518523..66574905hg38UCSC Ensembl
chr14:66985241..67041623hg19UCSC Ensembl
chr14:66054994..66111376hg18UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg3856383
hg1956383
hg1856383
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1040383, nsv1043369
Samples
Known GenesGPHN
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1927n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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