A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4020066



Internal ID11395121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:166201541..166201657hg38UCSC Ensembl
chr2:167058051..167058167hg19UCSC Ensembl
chr2:166766297..166766413hg18UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg38117
hg19117
hg18117
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1764654
Supporting Variants
SamplesHuRef
Known GenesSCN9A
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4020066
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