A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982111



Internal ID12627778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:247915783..248849447hg38UCSC Ensembl
Innerchr1:248079085..249143646hg19UCSC Ensembl
Innerchr1:246145708..247110269hg18UCSC Ensembl
Innerchr1:244405126..245353397hg17UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38933665
hg191064562
hg18964562
hg17948272
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2750832
Supporting Variants
SamplesBEC_521
Known GenesLYPD8, MIR3124, OR14C36, OR14I1, OR2AK2, OR2G6, OR2L13, OR2L1P, OR2L2, OR2L3, OR2L5, OR2L8, OR2M1P, OR2M2, OR2M3, OR2M4, OR2M5, OR2M7, OR2T1, OR2T10, OR2T11, OR2T12, OR2T2, OR2T27, OR2T29, OR2T3, OR2T33, OR2T34, OR2T35, OR2T4, OR2T5, OR2T6, OR2T8, SH3BP5L, ZNF672
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982111
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