A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3575722



Internal ID7047104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:38113459..38113593hg38UCSC Ensembl
chr3:38154950..38155084hg19UCSC Ensembl
chr3:38129954..38130088hg18UCSC Ensembl
Cytoband3p22.2
Allele length
AssemblyAllele length
hg38135
hg19135
hg18135
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1008921
Supporting Variants
SamplesHuRef
Known GenesDLEC1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3575722
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer