A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751100



Internal ID12637966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:47147607..47352374hg38UCSC Ensembl
Innerchr12:47541390..47746157hg19UCSC Ensembl
Innerchr12:45827657..46032424hg18UCSC Ensembl
Innerchr12:45827657..46032424hg17UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg38204768
hg19204768
hg18204768
hg17204768
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6982220, essv6989592, essv6982221, essv6982219
SamplesBEC_404
Known GenesMIR4698, PCED1B, PCED1B-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)esv2751100
Frequency
Sample Size771
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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