A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1317413



Internal ID12480536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:34926506..34926577hg38UCSC Ensembl
chr21:36298803..36298874hg19UCSC Ensembl
chr21:35220673..35220744hg18UCSC Ensembl
Cytoband21q22.12
Allele length
AssemblyAllele length
hg3872
hg1972
hg1872
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3647597
SamplesHuRef
Known GenesRUNX1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1317413
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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