A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3565603



Internal ID7036985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:222151684..222157304hg38UCSC Ensembl
Outerchr1:222325026..222330646hg19UCSC Ensembl
Outerchr1:220391649..220397269hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg385621
hg195621
hg185621
Variant TypeCNV deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1007260
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3565603
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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