A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1649787



Internal ID12466220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:36429285..36429285hg38UCSC Ensembl
chr6:36397062..36397062hg19UCSC Ensembl
chr6:36505040..36505040hg18UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg38399
hg19399
hg18399
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4366287
SamplesHuRef
Known GenesPXT1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1649787
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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