A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1004280



Internal ID7069380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:223099933..223103761hg38UCSC Ensembl
Outerchr1:223273275..223277103hg19UCSC Ensembl
Outerchr1:221339898..221343726hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg383829
hg193829
hg183829
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565324
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1004280
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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