A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3923850



Internal ID11491336
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1575991
Supporting Variants
SamplesHuRef
Known GenesTMEM67
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3923850
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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