A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978007



Internal ID12978472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:41804445..41852713hg38UCSC Ensembl
Innerchr18:39384410..39432678hg19UCSC Ensembl
Innerchr18:37638408..37686676hg18UCSC Ensembl
Innerchr18:37638408..37686676hg17UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg3848269
hg1948269
hg1848269
hg1748269
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34808
Supporting Variants
SamplesNA10856
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978007
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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