A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3564297



Internal ID6688993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:20104576..20116485hg38UCSC Ensembl
Outerchr1:20431069..20442978hg19UCSC Ensembl
Outerchr1:20303656..20315565hg18UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg3811910
hg1911910
hg1811910
Variant TypeCNV deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1003821
Supporting Variants
SamplesHuRef
Known GenesPLA2G2D
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3564297
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