A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750815



Internal ID12637681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:166984629..167211105hg38UCSC Ensembl
Innerchr1:166953866..167180342hg19UCSC Ensembl
Innerchr1:165220490..165446966hg18UCSC Ensembl
Innerchr1:163685524..163912000hg17UCSC Ensembl
Cytoband1q24.1
Allele length
AssemblyAllele length
hg38226477
hg19226477
hg18226477
hg17226477
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6988531, essv6986157, essv6982399, essv6982400, essv6982401
SamplesBEC_437
Known GenesDUSP27, GPA33, MAEL
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2750815
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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