A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6516n100



Internal ID20158132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:82173613..82871491hg38UCSC Ensembl
chr7:81802929..82500807hg19UCSC Ensembl
chr7:81640865..82338743hg18UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg38697879
hg19697879
hg18697879
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1018437, nsv1027670, nsv1016463
Samples
Known GenesCACNA2D1, PCLO
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv6516n100
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