A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4053803



Internal ID11708071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:143040668..143040668hg38UCSC Ensembl
chr8:144122085..144122085hg19UCSC Ensembl
chr8:144193460..144193460hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3850
hg1950
hg1850
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1451224
Supporting Variants
SamplesHuRef
Known GenesC8orf31
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4053803
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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