A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv590n100



Internal ID20152206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:236139422..236267713hg38UCSC Ensembl
chr1:236302722..236431013hg19UCSC Ensembl
chr1:234369345..234497636hg18UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg38128292
hg19128292
hg18128292
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1007023, nsv1014768
Samples
Known GenesERO1LB, GPR137B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv590n100
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer