A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6746n100



Internal ID19017114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:146502498..146722255hg38UCSC Ensembl
chr7:146199590..146419347hg19UCSC Ensembl
chr7:145830523..146050280hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38219758
hg19219758
hg18219758
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1021967, nsv1015996
Samples
Known GenesCNTNAP2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv6746n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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