A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2585648



Internal ID347227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:2431790..2432696hg38UCSC Ensembl
Outerchr4:2431472..2434958hg38UCSC Ensembl
Innerchr4:2433517..2434423hg19UCSC Ensembl
Outerchr4:2433199..2436685hg19UCSC Ensembl
Innerchr4:2403315..2404221hg18UCSC Ensembl
Outerchr4:2402997..2406483hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg383487
hg193487
hg183487
Variant TypeCNV gain
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv275562
Supporting Variants
Samples
Known GenesLOC402160
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)essv2585648
Frequency
Sample Size1250
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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