A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv17e55



Internal ID20126496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:248079226..248654081hg38UCSC Ensembl
chr1:248242528..248817382hg19UCSC Ensembl
chr1:246309151..246884005hg18UCSC Ensembl
chr1:244568569..245143423hg17UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38574856
hg19574855
hg18574855
hg17574855
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2750833, esv2750834
SamplesBEC_592, BEC_693
Known GenesOR14C36, OR2G6, OR2L13, OR2M1P, OR2M2, OR2M3, OR2M4, OR2M5, OR2M7, OR2T1, OR2T10, OR2T11, OR2T12, OR2T2, OR2T27, OR2T29, OR2T3, OR2T33, OR2T34, OR2T35, OR2T4, OR2T5, OR2T6
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)dgv17e55
Frequency
Sample Size771
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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