A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34228



Internal ID12643581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:36536338..36849164hg38UCSC Ensembl
Innerchr18:34116301..34429127hg19UCSC Ensembl
Innerchr18:32370299..32683125hg18UCSC Ensembl
Innerchr18:32370299..32683125hg17UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg38312827
hg19312827
hg18312827
hg17312827
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6990201, essv6978139, essv6978138, essv6978137, essv6978136
SamplesNA18971
Known GenesFHOD3, KIAA1328, TPGS2
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)esv34228
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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