A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3565310



Internal ID7036692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:112292133..112295221hg38UCSC Ensembl
Outerchr1:112834755..112837843hg19UCSC Ensembl
Outerchr1:112636278..112639366hg18UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg383089
hg193089
hg183089
Variant TypeCNV deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1001069
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3565310
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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