A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1693395



Internal ID12509827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:5787225..5787225hg38UCSC Ensembl
chr19:5787236..5787236hg19UCSC Ensembl
chr19:5738236..5738236hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38126
hg19126
hg18126
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3884332
SamplesHuRef
Known GenesDUS3L
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1693395
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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