A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984094



Internal ID12630994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:45330443..45415590hg38UCSC Ensembl
Innerchr1:45796115..45881262hg19UCSC Ensembl
Innerchr1:45568702..45653849hg18UCSC Ensembl
Innerchr1:45465208..45550355hg17UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg3885148
hg1985148
hg1885148
hg1785148
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2750837
Supporting Variants
SamplesBEC_774
Known GenesMUTYH, TESK2, TOE1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984094
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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