A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3860783



Internal ID11554402
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:144557377..144557377hg38UCSC Ensembl
chr8:145782761..145782761hg19UCSC Ensembl
chr8:145753569..145753569hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38604
hg19604
hg18604
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1657415
Supporting Variants
SamplesHuRef
Known GenesARHGAP39
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3860783
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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