A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1568n100



Internal ID19011936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:123637829..123678203hg38UCSC Ensembl
chr12:124122376..124162750hg19UCSC Ensembl
chr12:122688329..122728703hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3840375
hg1940375
hg1840375
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1040119, nsv1053923
Samples
Known GenesGTF2H3, TCTN2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1568n100
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