A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3920283



Internal ID11494902
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:111502173..111502173hg38UCSC Ensembl
chr1:112044795..112044795hg19UCSC Ensembl
chr1:111846318..111846318hg18UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg3867
hg1967
hg1867
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1401225
Supporting Variants
SamplesHuRef
Known GenesADORA3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3920283
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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