A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751113



Internal ID12984665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7807020..7987805hg38UCSC Ensembl
Innerchr12:7959616..8140401hg19UCSC Ensembl
Innerchr12:7850883..8031668hg18UCSC Ensembl
Innerchr12:7850883..8031668hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38180786
hg19180786
hg18180786
hg17180786
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv58e55
Supporting Variantsessv6983707, essv6983706
SamplesBEC_615
Known GenesSLC2A14, SLC2A3
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)esv2751113
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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