A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4150155



Internal ID11086007
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1114154
Supporting Variants
SamplesHuRef
Known GenesARHGAP39
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4150155
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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