A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4060n100



Internal ID22790147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:117490138..117645069hg38UCSC Ensembl
chr2:118247714..118402645hg19UCSC Ensembl
chr2:117964184..118119115hg18UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg38154932
hg19154932
hg18154932
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1002412, nsv1014959, nsv1009469, nsv1013555, nsv999761, nsv1007374, nsv1013277
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4060n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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