A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv50e55



Internal ID22761000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:55609530..55853223hg38UCSC Ensembl
chr11:55377006..55620699hg19UCSC Ensembl
chr11:55133582..55377275hg18UCSC Ensembl
chr11:55133582..55377275hg17UCSC Ensembl
Cytoband11q11
Allele length
AssemblyAllele length
hg38243694
hg19243694
hg18243694
hg17243694
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv34793, esv34637
SamplesNA19211, NA19093
Known GenesOR4C6, OR4P4, OR4S2, OR5D13, OR5D14, OR5D16, OR5D18, OR5L1, OR5L2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)dgv50e55
Frequency
Sample Size771
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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