A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2585275



Internal ID168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:213833847..213838550hg38UCSC Ensembl
Outerchr1:213830375..213840793hg38UCSC Ensembl
Innerchr1:214007190..214011893hg19UCSC Ensembl
Outerchr1:214003718..214014136hg19UCSC Ensembl
Innerchr1:212073813..212078516hg18UCSC Ensembl
Outerchr1:212070341..212080759hg18UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg3810419
hg1910419
hg1810419
Variant TypeCNV loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv275485
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)essv2585275
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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