A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751842



Internal ID12638708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:229802854..230061420hg38UCSC Ensembl
Innerchr2:230667570..230926136hg19UCSC Ensembl
Innerchr2:230375814..230634380hg18UCSC Ensembl
Innerchr2:230493075..230751641hg17UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg38258567
hg19258567
hg18258567
hg17258567
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv164e55
Supporting Variantsessv6987607, essv6984520, essv6984521
SamplesBEC_714
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)esv2751842
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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