A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1008534



Internal ID6720644
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:50557199..50560012hg38UCSC Ensembl
Outerchr10:52316959..52319772hg19UCSC Ensembl
Outerchr10:51986965..51989778hg18UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg384612
hg194612
hg184612
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3563892
SamplesHuRef
Known GenesSGMS1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1008534
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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