A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4073n100



Internal ID20155689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:130091652..130400286hg38UCSC Ensembl
chr2:130849225..131157859hg19UCSC Ensembl
chr2:130565695..130874329hg18UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38308635
hg19308635
hg18308635
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1010826, nsv999205, nsv1006885, nsv1001146, nsv1011290
Samples
Known GenesCCDC115, CCDC74B, IMP4, MED15P9, MZT2B, POTEF, PTPN18, SMPD4, TUBA3E
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4073n100
Frequency
Sample Size29084
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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