A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982302



Internal ID12626835
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:229808779..230066779hg38UCSC Ensembl
Innerchr2:230673495..230931495hg19UCSC Ensembl
Innerchr2:230381739..230639739hg18UCSC Ensembl
Innerchr2:230499000..230757000hg17UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg38258001
hg19258001
hg18258001
hg17258001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751843
Supporting Variants
SamplesBEC_414
Known GenesFBXO36, SLC16A14, TRIP12
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982302
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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