A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3975263



Internal ID11786610
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:810328..810328hg38UCSC Ensembl
chr17:713568..713568hg19UCSC Ensembl
chr17:660318..660318hg18UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38136
hg19136
hg18136
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1751565
Supporting Variants
SamplesHuRef
Known GenesNXN
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3975263
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