A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986635



Internal ID12635388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:247704811..248079628hg38UCSC Ensembl
Innerchr1:247868113..248242930hg19UCSC Ensembl
Innerchr1:245934736..246309553hg18UCSC Ensembl
Innerchr1:244194154..244568971hg17UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38374818
hg19374818
hg18374818
hg17374818
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34503
Supporting Variants
SamplesNA19127
Known GenesOR11L1, OR14A16, OR1C1, OR2AK2, OR2L13, OR2L1P, OR2L2, OR2L3, OR2L5, OR2L8, OR2T8, OR2W3, OR6F1, TRIM58
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986635
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer