A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1685814



Internal ID12502246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:150953986..150953986hg38UCSC Ensembl
chr4:151875138..151875138hg19UCSC Ensembl
chr4:152094588..152094588hg18UCSC Ensembl
Cytoband4q31.3
Allele length
AssemblyAllele length
hg3880
hg1980
hg1880
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3593011
SamplesHuRef
Known GenesLRBA
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1685814
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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