A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4239612



Internal ID11522150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:147892503..147892503hg38UCSC Ensembl
chr2:148650072..148650072hg19UCSC Ensembl
chr2:148366542..148366542hg18UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg38305
hg19305
hg18305
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1299810
Supporting Variants
SamplesHuRef
Known GenesACVR2A
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4239612
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