A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4346411



Internal ID11282263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:50588359..50588359hg38UCSC Ensembl
chr17:48665720..48665720hg19UCSC Ensembl
chr17:46020719..46020719hg18UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg38111
hg19111
hg18111
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1506174
Supporting Variants
SamplesHuRef
Known GenesCACNA1G
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4346411
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