A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275350



Internal ID1570
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+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585226, essv2586065
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)esv275350
Frequency
Sample Size1250
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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