A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3569318



Internal ID7040700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:134209133..134212562hg38UCSC Ensembl
chr2:134966704..134970133hg19UCSC Ensembl
chr2:134683174..134686603hg18UCSC Ensembl
Cytoband2q21.2
Allele length
AssemblyAllele length
hg383430
hg193430
hg183430
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv993229
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3569318
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