A curated catalogue of human genomic structural variation




Variant Details

Variant: esv988265



Internal ID7075536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:99909459..99911162hg38UCSC Ensembl
Outerchr3:99628303..99630006hg19UCSC Ensembl
Outerchr3:101110993..101112696hg18UCSC Ensembl
Cytoband3q12.1
Allele length
AssemblyAllele length
hg381704
hg191704
hg181704
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564584
SamplesHuRef
Known GenesCMSS1, FILIP1L, MIR548G
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv988265
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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