A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34939



Internal ID12990975
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:262620..323985hg38UCSC Ensembl
Innerchr12:371786..433151hg19UCSC Ensembl
Innerchr12:242047..303412hg18UCSC Ensembl
Innerchr12:242047..303412hg17UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3861366
hg1961366
hg1861366
hg1761366
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6988100, essv6979090
SamplesNA12891
Known GenesKDM5A, SLC6A13
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)esv34939
Frequency
Sample Size771
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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