A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3689125



Internal ID11726059
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1317054
Supporting Variants
SamplesHuRef
Known GenesSMOC2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3689125
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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