A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751844



Internal ID12985396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:230314780..230415780hg38UCSC Ensembl
Innerchr2:231179495..231280495hg19UCSC Ensembl
Innerchr2:230887739..230988739hg18UCSC Ensembl
Innerchr2:231005000..231106000hg17UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38101001
hg19101001
hg18101001
hg17101001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6984113, essv6984115, essv6984114, essv6987494, essv6987493
SamplesBEC_775
Known GenesSP140L
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)esv2751844
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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