A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1179184



Internal ID11995621
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:193362790..193362790hg38UCSC Ensembl
chr3:193080579..193080579hg19UCSC Ensembl
chr3:194563273..194563273hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38100
hg19100
hg18100
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3865521
SamplesHuRef
Known GenesATP13A5
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1179184
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