A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3714348



Internal ID12047522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:39469254..39469254hg38UCSC Ensembl
chr3:39510745..39510745hg19UCSC Ensembl
chr3:39485749..39485749hg18UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg3850
hg1950
hg1850
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1395867
Supporting Variants
SamplesHuRef
Known GenesMOBP
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3714348
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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