A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1466694



Internal ID12283130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:117923606..117923606hg38UCSC Ensembl
chr6:118244769..118244769hg19UCSC Ensembl
chr6:118351462..118351462hg18UCSC Ensembl
Cytoband6q22.1
Allele length
AssemblyAllele length
hg3876
hg1976
hg1876
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3983323
SamplesHuRef
Known GenesSLC35F1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1466694
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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