A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34503



Internal ID12643854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:247589905..248212768hg38UCSC Ensembl
Innerchr1:247753207..248376070hg19UCSC Ensembl
Innerchr1:245819830..246442693hg18UCSC Ensembl
Innerchr1:244079248..244702111hg17UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38622864
hg19622864
hg18622864
hg17622864
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6978496, essv6986635, essv6978498, essv6990244, essv6978497
SamplesNA19127
Known GenesOR11L1, OR13G1, OR14A16, OR1C1, OR2AK2, OR2G3, OR2L13, OR2L1P, OR2L2, OR2L3, OR2L5, OR2L8, OR2M1P, OR2M2, OR2M3, OR2M5, OR2T8, OR2W3, OR6F1, TRIM58
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv34503
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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