A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1337n100



Internal ID20152953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:1480297..1517246hg38UCSC Ensembl
chr12:1589463..1626412hg19UCSC Ensembl
chr12:1459724..1496673hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3836950
hg1936950
hg1836950
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1049391, nsv1051478
Samples
Known GenesERC1, LINC00942
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1337n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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