A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1747191



Internal ID12563623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:9848712..9848902hg38UCSC Ensembl
chr16:9942569..9942759hg19UCSC Ensembl
chr16:9850070..9850260hg18UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg38191
hg19191
hg18191
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3679973
SamplesHuRef
Known GenesGRIN2A
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1747191
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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