A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986087



Internal ID12627794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:247912967..248873491hg38UCSC Ensembl
Innerchr1:248076269..249167690hg19UCSC Ensembl
Innerchr1:246142892..247134313hg18UCSC Ensembl
Innerchr1:244402310..245377441hg17UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38960525
hg191091422
hg18991422
hg17975132
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, ZNF692
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986087
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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