A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983006



Internal ID12627976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248359657..248703661hg38UCSC Ensembl
Innerchr1:248522959..248866962hg19UCSC Ensembl
Innerchr1:246589582..246933585hg18UCSC Ensembl
Innerchr1:244849000..245193000hg17UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38344005
hg19344004
hg18344004
hg17344001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2750835
Supporting Variants
SamplesBEC_533
Known GenesOR14I1, OR2G6, OR2T1, OR2T10, OR2T11, OR2T2, OR2T27, OR2T29, OR2T3, OR2T34, OR2T35, OR2T4, OR2T5, OR2T6
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6983006
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