A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1430054



Internal ID12246490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:8294963..8294963hg38UCSC Ensembl
chr4:8296690..8296690hg19UCSC Ensembl
chr4:8347590..8347590hg18UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38494
hg19494
hg18494
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4110167
SamplesHuRef
Known GenesHTRA3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1430054
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