A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2585226



Internal ID119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:40108258..40109500hg38UCSC Ensembl
Outerchr2:40105711..40110927hg38UCSC Ensembl
Innerchr2:40335398..40336640hg19UCSC Ensembl
Outerchr2:40332851..40338067hg19UCSC Ensembl
Innerchr2:40188902..40190144hg18UCSC Ensembl
Outerchr2:40186355..40191571hg18UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg385217
hg195217
hg185217
Variant TypeCNV gain
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv275350
Supporting Variants
Samples
Known GenesSLC8A1-AS1
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)essv2585226
Frequency
Sample Size1250
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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