A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1049502



Internal ID11865941
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3668470
SamplesHuRef
Known GenesADARB1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1049502
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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