A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4308682



Internal ID11244534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:42894363..42894363hg38UCSC Ensembl
chr21:44314473..44314473hg19UCSC Ensembl
chr21:43187542..43187542hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38140
hg19140
hg18140
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1737156
Supporting Variants
SamplesHuRef
Known GenesNDUFV3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4308682
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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