A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978686



Internal ID12632279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:6741971..6834651hg38UCSC Ensembl
Innerchr18:6741970..6834650hg19UCSC Ensembl
Innerchr18:6731970..6824650hg18UCSC Ensembl
Innerchr18:6731970..6824650hg17UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg3892681
hg1992681
hg1892681
hg1792681
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34611
Supporting Variants
SamplesNA12145
Known GenesARHGAP28
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978686
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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