A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982110



Internal ID12627777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:247912967..248659685hg38UCSC Ensembl
Innerchr1:248076269..248822986hg19UCSC Ensembl
Innerchr1:246142892..246889609hg18UCSC Ensembl
Innerchr1:244402310..245149027hg17UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38746719
hg19746718
hg18746718
hg17746718
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2750832
Supporting Variants
SamplesBEC_521
Known GenesOR14C36, 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
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982110
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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