A curated catalogue of human genomic structural variation




Variant Details

Variant: esv996531



Internal ID6732475
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:13128125..13128714hg38UCSC Ensembl
Outerchr6:13128357..13128946hg19UCSC Ensembl
Outerchr6:13236343..13236932hg18UCSC Ensembl
Cytoband6p24.1
Allele length
AssemblyAllele length
hg385272
hg195272
hg185272
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564906
SamplesHuRef
Known GenesPHACTR1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv996531
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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