A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3582555



Internal ID7053937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:239538197..239538282hg38UCSC Ensembl
chr2:240459891..240459976hg19UCSC Ensembl
chr2:240124828..240124913hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3886
hg1986
hg1886
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv995187
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3582555
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