A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1002583



Internal ID7067698
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:210654198..210656140hg38UCSC Ensembl
Outerchr1:210827542..210829484hg19UCSC Ensembl
Outerchr1:208894165..208896107hg18UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg386790
hg196790
hg186790
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3563844
SamplesHuRef
Known GenesHHAT
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1002583
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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