A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1394802



Internal ID12211238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:3693782..3693782hg38UCSC Ensembl
chr1:3610346..3610346hg19UCSC Ensembl
chr1:3600206..3600206hg18UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg38281
hg19281
hg18281
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4024850
SamplesHuRef
Known GenesTP73
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1394802
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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