A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275327



Internal ID1547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:230065181..230065384hg38UCSC Ensembl
Outerchr1:230055271..230068791hg38UCSC Ensembl
Innerchr1:230200928..230201131hg19UCSC Ensembl
Outerchr1:230191018..230204538hg19UCSC Ensembl
Innerchr1:228267551..228267754hg18UCSC Ensembl
Outerchr1:228257641..228271161hg18UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg3813521
hg1913521
hg1813521
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585140, essv2585233
Samples
Known GenesGALNT2
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)esv275327
Frequency
Sample Size1250
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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