A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978496



Internal ID12635393
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 StatusS
Merged Variantsesv34503
Supporting Variants
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
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978496
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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