A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4180n100



Internal ID20155796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:230309705..230393888hg38UCSC Ensembl
chr2:231174420..231258603hg19UCSC Ensembl
chr2:230882664..230966847hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3884184
hg1984184
hg1884184
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1004183, nsv1013738
Samples
Known GenesSP140, SP140L
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4180n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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