A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751843



Internal ID12638709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:229802854..230128418hg38UCSC Ensembl
Innerchr2:230667570..230993134hg19UCSC Ensembl
Innerchr2:230375814..230701378hg18UCSC Ensembl
Innerchr2:230493075..230818639hg17UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg38325565
hg19325565
hg18325565
hg17325565
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv164e55
Supporting Variantsessv6986139, essv6988518, essv6982302
SamplesBEC_414
Known GenesFBXO36, SLC16A14, TRIP12
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)esv2751843
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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