A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985009



Internal ID12983882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:71196684..71397884hg38UCSC Ensembl
Innerchr18:68863920..69065120hg19UCSC Ensembl
Innerchr18:67014900..67216100hg18UCSC Ensembl
Innerchr18:67014900..67216100hg17UCSC Ensembl
Cytoband18q22.3
Allele length
AssemblyAllele length
hg38201201
hg19201201
hg18201201
hg17201201
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751778
Supporting Variants
SamplesSPC_31
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6985009
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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