A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275563



Internal ID1783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:64986000..64987477hg38UCSC Ensembl
Outerchr2:64985970..64993232hg38UCSC Ensembl
Innerchr2:65213134..65214611hg19UCSC Ensembl
Outerchr2:65213104..65220366hg19UCSC Ensembl
Innerchr2:65066638..65068115hg18UCSC Ensembl
Outerchr2:65066608..65073870hg18UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg387263
hg197263
hg187263
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585397
Samples
Known GenesSLC1A4
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)esv275563
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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