A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4257843



Internal ID11193695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:45146127..45146206hg38UCSC Ensembl
chr21:46566042..46566121hg19UCSC Ensembl
chr21:45390470..45390549hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3880
hg1980
hg1880
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1361921
Supporting Variants
SamplesHuRef
Known GenesADARB1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4257843
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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