A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1737771



Internal ID12900889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:44229659..44229659hg38UCSC Ensembl
chr21:45649542..45649542hg19UCSC Ensembl
chr21:44473970..44473970hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38129
hg19129
hg18129
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3667917
SamplesHuRef
Known GenesICOSLG
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1737771
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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