A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2585536



Internal ID347115
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:41991405..41991441hg38UCSC Ensembl
Outerchr2:41991194..41993953hg38UCSC Ensembl
Innerchr2:42218545..42218581hg19UCSC Ensembl
Outerchr2:42218334..42221093hg19UCSC Ensembl
Innerchr2:42072049..42072085hg18UCSC Ensembl
Outerchr2:42071838..42074597hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg382760
hg192760
hg182760
Variant TypeCNV gain
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv274903
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)essv2585536
Frequency
Sample Size1250
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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