A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3641045



Internal ID12120823
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:21305489..21308171hg38UCSC Ensembl
chr20:21286127..21288809hg19UCSC Ensembl
chr20:21234127..21236809hg18UCSC Ensembl
Cytoband20p11.22
Allele length
AssemblyAllele length
hg382683
hg192683
hg182683
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1596170
Supporting Variants
SamplesHuRef
Known GenesXRN2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3641045
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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