A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6980051



Internal ID12634499
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:189769697..189808697hg38UCSC Ensembl
Innerchr4:190690851..190729851hg19UCSC Ensembl
Innerchr4:190927845..190966845hg18UCSC Ensembl
Innerchr4:191066000..191105000hg17UCSC Ensembl
Cytoband4q35.2
Allele length
AssemblyAllele length
hg3839001
hg1939001
hg1839001
hg1739001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34388
Supporting Variants
SamplesNA18945
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6980051
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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