A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4193n100



Internal ID20155809
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:237988669..238064519hg38UCSC Ensembl
chr2:238897311..238973160hg19UCSC Ensembl
chr2:238562050..238637899hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3875851
hg1975850
hg1875850
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1012277, nsv1003800
Samples
Known GenesSCLY, UBE2F, UBE2F-SCLY
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4193n100
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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