A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3700474



Internal ID11714708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:3421291..3421291hg38UCSC Ensembl
chr18:3421289..3421289hg19UCSC Ensembl
chr18:3411289..3411289hg18UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg3871
hg1971
hg1871
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1720477
Supporting Variants
SamplesHuRef
Known GenesTGIF1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3700474
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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