A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2585715



Internal ID347294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:142190133..142190370hg38UCSC Ensembl
Outerchr2:142189944..142190712hg38UCSC Ensembl
Innerchr2:142947702..142947939hg19UCSC Ensembl
Outerchr2:142947513..142948281hg19UCSC Ensembl
Innerchr2:142664172..142664409hg18UCSC Ensembl
Outerchr2:142663983..142664751hg18UCSC Ensembl
Cytoband2q22.2
Allele length
AssemblyAllele length
hg38769
hg19769
hg18769
Variant TypeCNV loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv275201
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)essv2585715
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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