A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1757388



Internal ID12573820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:128548136..128548136hg38UCSC Ensembl
chr11:128418031..128418031hg19UCSC Ensembl
chr11:127923241..127923241hg18UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg3850
hg1950
hg1850
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4174561
SamplesHuRef
Known GenesETS1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1757388
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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