A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3565805



Internal ID7037187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:119334017..119334123hg38UCSC Ensembl
Outerchr1:119876640..119876746hg19UCSC Ensembl
Outerchr1:119678163..119678269hg18UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg382758
hg192758
hg182758
Variant TypeCNV insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1007303
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3565805
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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