A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4892n100



Internal ID22790979
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:130067519..130170931hg38UCSC Ensembl
chr3:129786362..129889774hg19UCSC Ensembl
chr3:131269052..131372464hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg38103413
hg19103413
hg18103413
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1014349, nsv999197, nsv1013900
Samples
Known GenesALG1L2, FAM86HP
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4892n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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