A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4213416



Internal ID11149268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:63354270..63354270hg38UCSC Ensembl
chr20:61985622..61985622hg19UCSC Ensembl
chr20:61456066..61456066hg18UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38224
hg19224
hg18224
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1299744
Supporting Variants
SamplesHuRef
Known GenesCHRNA4
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4213416
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