A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751841



Internal ID12638707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:229710778..229964878hg38UCSC Ensembl
Innerchr2:230575494..230829594hg19UCSC Ensembl
Innerchr2:230283738..230537838hg18UCSC Ensembl
Innerchr2:230400999..230655099hg17UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg38254101
hg19254101
hg18254101
hg17254101
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6987204, essv6988915, essv6985289
SamplesSPC_138
Known GenesDNER, FBXO36, TRIP12
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2751841
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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