A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3668470



Internal ID11746713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:45224538..45224538hg38UCSC Ensembl
chr21:46644453..46644453hg19UCSC Ensembl
chr21:45468881..45468881hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38562
hg19562
hg18562
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1049502
Supporting Variants
SamplesHuRef
Known GenesADARB1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3668470
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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