A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3655535



Internal ID11759648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:24445282..24445282hg38UCSC Ensembl
chr8:24302795..24302795hg19UCSC Ensembl
chr8:24358740..24358740hg18UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg3855
hg1955
hg1855
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1347031
Supporting Variants
SamplesHuRef
Known GenesADAM7
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3655535
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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