A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751048



Internal ID12984600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31048988..31261539hg38UCSC Ensembl
Innerchr12:31201922..31414473hg19UCSC Ensembl
Innerchr12:31093189..31305740hg18UCSC Ensembl
Innerchr12:31093189..31305740hg17UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38212552
hg19212552
hg18212552
hg17212552
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv61e55
Supporting Variantsessv6982775, essv6986254, essv6982776
SamplesBEC_592
Known GenesDDX11, DDX11-AS1
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)esv2751048
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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