A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1344439



Internal ID12160875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:113841946..113841946hg38UCSC Ensembl
chr13:114544919..114544919hg19UCSC Ensembl
chr13:113569024..113569024hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38219
hg19219
hg18219
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4297132
SamplesHuRef
Known GenesGAS6, GAS6-AS1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1344439
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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