A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750832



Internal ID12637698
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:247897657..248873491hg38UCSC Ensembl
Innerchr1:248060959..249167690hg19UCSC Ensembl
Innerchr1:246127582..247134313hg18UCSC Ensembl
Innerchr1:244387000..245377441hg17UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38975835
hg191106732
hg181006732
hg17990442
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6982111, essv6986087, essv6982110, essv6982109
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
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2750832
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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