A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275573



Internal ID1793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:150929539..150929609hg38UCSC Ensembl
Outerchr3:150929429..150930434hg38UCSC Ensembl
Innerchr3:150647326..150647396hg19UCSC Ensembl
Outerchr3:150647216..150648221hg19UCSC Ensembl
Innerchr3:152130016..152130086hg18UCSC Ensembl
Outerchr3:152129906..152130911hg18UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg381006
hg191006
hg181006
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585945, essv2585191
Samples
Known GenesCLRN1
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)esv275573
Frequency
Sample Size1250
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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