A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1003821



Internal ID6715948
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 Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564297
SamplesHuRef
Known GenesPLA2G2D
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1003821
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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