A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1371818



Internal ID12188254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:161874727..161874727hg38UCSC Ensembl
chr6:162295759..162295759hg19UCSC Ensembl
chr6:162215749..162215749hg18UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg3868
hg1968
hg1868
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4104164
SamplesHuRef
Known GenesPARK2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1371818
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