A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751044



Internal ID12637910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31018094..31253973hg38UCSC Ensembl
Innerchr12:31171028..31406907hg19UCSC Ensembl
Innerchr12:31062295..31298174hg18UCSC Ensembl
Innerchr12:31062295..31298174hg17UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38235880
hg19235880
hg18235880
hg17235880
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv61e55
Supporting Variantsessv6981982, essv6988476
SamplesBEC_510
Known GenesDDX11, DDX11-AS1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2751044
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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