A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1557821



Internal ID12374256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:40620230..40620230hg38UCSC Ensembl
chr21:41992156..41992156hg19UCSC Ensembl
chr21:40914026..40914026hg18UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg38157
hg19157
hg18157
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3687012
SamplesHuRef
Known GenesDSCAM, DSCAM-IT1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1557821
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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