A curated catalogue of human genomic structural variation




Variant Details

Variant: esv993520



Internal ID6729477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:181045058..181059055hg38UCSC Ensembl
Outerchr1:181014194..181028191hg19UCSC Ensembl
Outerchr1:179280817..179294814hg18UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg3813998
hg1913998
hg1813998
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3563746
SamplesHuRef
Known GenesMR1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv993520
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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