A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5161275



Internal ID7905989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:184299495..184425713hg38UCSC Ensembl
Innerchr3:184017283..184143501hg19UCSC Ensembl
Innerchr3:185499977..185626195hg18UCSC Ensembl
Innerchr3:185499985..185626203hg17UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg38126219
hg19126219
hg18126219
hg17126219
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2422400
Supporting Variants
SamplesND04568
Known GenesCHRD, CLCN2, EIF4G1, FAM131A, POLR2H, PSMD2, SNORD66, THPO
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)essv5161275
Frequency
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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