A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1005530



Internal ID6717650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:1048200..1054415hg38UCSC Ensembl
Outerchr19:1048199..1054414hg19UCSC Ensembl
Outerchr19:999199..1005414hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg382458
hg192458
hg182458
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564802
SamplesHuRef
Known GenesABCA7
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1005530
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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