A curated catalogue of human genomic structural variation




Variant Details

Variant: esv35148



Internal ID12644498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:123634573..123711573hg38UCSC Ensembl
Innerchr12:124119120..124196120hg19UCSC Ensembl
Innerchr12:122685073..122762073hg18UCSC Ensembl
Innerchr12:122644000..122721000hg17UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3877001
hg1977001
hg1877001
hg1777001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6978885, essv6986739
SamplesNA12753
Known GenesGTF2H3, TCTN2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv35148
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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