A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982109



Internal ID12627776
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:247897657..248849050hg38UCSC Ensembl
Innerchr1:248060959..249143249hg19UCSC Ensembl
Innerchr1:246127582..247109872hg18UCSC Ensembl
Innerchr1:244387000..245353000hg17UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38951394
hg191082291
hg18982291
hg17966001
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)essv6982109
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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