A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4206518



Internal ID11142370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:22625889..22625889hg38UCSC Ensembl
chr8:22483402..22483402hg19UCSC Ensembl
chr8:22539347..22539347hg18UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg38330
hg19330
hg18330
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1623916
Supporting Variants
SamplesHuRef
Known GenesBIN3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4206518
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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