A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6980762



Internal ID12971947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:187112211..188015212hg38UCSC Ensembl
Innerchr1:187081343..187984343hg19UCSC Ensembl
Innerchr1:185347966..186250966hg18UCSC Ensembl
Innerchr1:183813000..184716000hg17UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg38903002
hg19903001
hg18903001
hg17903001
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2750817
Supporting Variants
SamplesBEC_132
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6980762
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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