A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34542



Internal ID12643893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:37463931..38563531hg38UCSC Ensembl
Innerchr12:37857733..38957333hg19UCSC Ensembl
Innerchr12:36144000..37243600hg18UCSC Ensembl
Innerchr12:36144000..37243600hg17UCSC Ensembl
Cytoband12q11
Allele length
AssemblyAllele length
hg381099601
hg191099601
hg181099601
hg171099601
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6979399, essv6986855, essv6979401, essv6986854, essv6979400, essv6990360
SamplesNA18547
Known GenesALG10B
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)esv34542
Frequency
Sample Size771
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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