A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1114154



Internal ID11930592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:144531241..144531241hg38UCSC Ensembl
chr8:145756625..145756625hg19UCSC Ensembl
chr8:145727433..145727433hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3852
hg1952
hg1852
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4150155
SamplesHuRef
Known GenesARHGAP39
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1114154
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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