A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1145264



Internal ID11961701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:149764600..149764600hg38UCSC Ensembl
chr3:149482387..149482387hg19UCSC Ensembl
chr3:150965077..150965077hg18UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg3885
hg1985
hg1885
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4215998
SamplesHuRef
Known GenesANKUB1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1145264
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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