A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751122



Internal ID12984674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7864882..7982073hg38UCSC Ensembl
Innerchr12:8017478..8134669hg19UCSC Ensembl
Innerchr12:7908745..8025936hg18UCSC Ensembl
Innerchr12:7908745..8025936hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38117192
hg19117192
hg18117192
hg17117192
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv60e55
Supporting Variantsessv6989763, essv6983246, essv6983245
SamplesBEC_559
Known GenesSLC2A14, SLC2A3
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)esv2751122
Frequency
Sample Size771
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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