A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3722457



Internal ID11692727
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:99650357..99650357hg38UCSC Ensembl
chr12:100044135..100044135hg19UCSC Ensembl
chr12:98568266..98568266hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3870
hg1970
hg1870
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1457090
Supporting Variants
SamplesHuRef
Known GenesANKS1B
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3722457
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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