A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983399



Internal ID12629527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:43320..156781hg38UCSC Ensembl
Innerchr3:85002..198464hg19UCSC Ensembl
Innerchr3:60002..173464hg18UCSC Ensembl
Innerchr3:60002..173464hg17UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg38113462
hg19113463
hg18113463
hg17113463
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752007
Supporting Variants
SamplesBEC_647
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6983399
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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