A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984347



Internal ID12630159
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248181617..248442357hg38UCSC Ensembl
Innerchr1:248344919..248605658hg19UCSC Ensembl
Innerchr1:246411542..246672281hg18UCSC Ensembl
Innerchr1:244670960..244931699hg17UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38260741
hg19260740
hg18260740
hg17260740
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2750834
Supporting Variants
SamplesBEC_693
Known GenesOR14C36, OR2M3, OR2M4, OR2M7, OR2T1, OR2T12, OR2T33, OR2T4, OR2T6
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984347
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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