A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750837



Internal ID12637703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:45330443..45442591hg38UCSC Ensembl
Innerchr1:45796115..45908263hg19UCSC Ensembl
Innerchr1:45568702..45680850hg18UCSC Ensembl
Innerchr1:45465208..45577356hg17UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg38112149
hg19112149
hg18112149
hg17112149
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6984094, essv6984095
SamplesBEC_774
Known GenesMUTYH, TESK2, TOE1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2750837
Frequency
Sample Size771
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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