A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3721671



Internal ID11693513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:51790814..51790814hg38UCSC Ensembl
chr8:52703374..52703374hg19UCSC Ensembl
chr8:52865927..52865927hg18UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg382425
hg192425
hg182425
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1518773
Supporting Variants
SamplesHuRef
Known GenesPXDNL
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3721671
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