A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6989682



Internal ID12975521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248181617..248654081hg38UCSC Ensembl
Innerchr1:248344919..248817382hg19UCSC Ensembl
Innerchr1:246411542..246884005hg18UCSC Ensembl
Innerchr1:244670960..245143423hg17UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38472465
hg19472464
hg18472464
hg17472464
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2750833
Supporting Variants
SamplesBEC_592
Known GenesOR14C36, OR2G6, OR2M3, OR2M4, OR2M7, OR2T1, OR2T10, OR2T11, OR2T12, OR2T2, OR2T27, OR2T29, OR2T3, OR2T33, OR2T34, OR2T35, OR2T4, OR2T5, OR2T6
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6989682
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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