A curated catalogue of human genomic structural variation




Variant Details

Variant: esv990753



Internal ID7076884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:106678292..106679816hg38UCSC Ensembl
Outerchr12:107072070..107073594hg19UCSC Ensembl
Outerchr12:105596200..105597724hg18UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg383714
hg193714
hg183714
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565488
SamplesHuRef
Known GenesLOC100287944, RFX4
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv990753
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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