A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv48e55



Internal ID22760998
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:48324650..48950950hg38UCSC Ensembl
chr11:48346202..48972502hg19UCSC Ensembl
chr11:48302778..48929078hg18UCSC Ensembl
chr11:48302778..48929078hg17UCSC Ensembl
Cytoband11p11.12
Allele length
AssemblyAllele length
hg38626301
hg19626301
hg18626301
hg17626301
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2751025, esv34253, esv34690
SamplesNA12707, NA12716, SPC_25
Known GenesOR4A47, OR4C3, OR4C45
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)dgv48e55
Frequency
Sample Size771
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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