A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6641n100



Internal ID20158257
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:139693076..139984244hg38UCSC Ensembl
chr7:139377822..139684043hg19UCSC Ensembl
chr7:139028362..139330512hg18UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg38291169
hg19306222
hg18302151
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1020234, nsv1032711
Samples
Known GenesHIPK2, TBXAS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv6641n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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