A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2586045



Internal ID938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:168737739..168738394hg38UCSC Ensembl
Outerchr5:168737243..168743570hg38UCSC Ensembl
Innerchr5:168164744..168165399hg19UCSC Ensembl
Outerchr5:168164248..168170575hg19UCSC Ensembl
Innerchr5:168097322..168097977hg18UCSC Ensembl
Outerchr5:168096826..168103153hg18UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg386328
hg196328
hg186328
Variant TypeCNV loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv275039
Supporting Variants
Samples
Known GenesSLIT3
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)essv2586045
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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