A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4288763



Internal ID11224615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:59133267..59133267hg38UCSC Ensembl
chr20:57708322..57708322hg19UCSC Ensembl
chr20:57141717..57141717hg18UCSC Ensembl
Cytoband20q13.32
Allele length
AssemblyAllele length
hg38147
hg19147
hg18147
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1576253
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4288763
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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