A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3904440



Internal ID11857431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:187351003..187351310hg38UCSC Ensembl
chr2:188215730..188216037hg19UCSC Ensembl
chr2:187923975..187924282hg18UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg38308
hg19308
hg18308
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1045156
Supporting Variants
SamplesHuRef
Known GenesCALCRL
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3904440
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