A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1623916



Internal ID12440351
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4206518
SamplesHuRef
Known GenesBIN3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1623916
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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