A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987448



Internal ID12977411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:191490698..191620598hg38UCSC Ensembl
Innerchr1:191459828..191589728hg19UCSC Ensembl
Innerchr1:189726451..189856351hg18UCSC Ensembl
Innerchr1:188191485..188321385hg17UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg38129901
hg19129901
hg18129901
hg17129901
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2750821
Supporting Variants
SamplesBEC_735
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6987448
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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