A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1317054



Internal ID12133490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:168448414..168448414hg38UCSC Ensembl
chr6:168849094..168849094hg19UCSC Ensembl
chr6:168591943..168591943hg18UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg3887
hg1987
hg1887
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3689125
SamplesHuRef
Known GenesSMOC2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1317054
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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