A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1575991



Internal ID12392426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:93808505..93808505hg38UCSC Ensembl
chr8:94820733..94820733hg19UCSC Ensembl
chr8:94889909..94889909hg18UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg38112
hg19112
hg18112
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3923850
SamplesHuRef
Known GenesTMEM67
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1575991
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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