A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984705



Internal ID12983375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:176822510..176949510hg38UCSC Ensembl
Innerchr3:176540298..176667298hg19UCSC Ensembl
Innerchr3:178022992..178149992hg18UCSC Ensembl
Innerchr3:178023000..178150000hg17UCSC Ensembl
Cytoband3q26.32
Allele length
AssemblyAllele length
hg38127001
hg19127001
hg18127001
hg17127001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751983
Supporting Variants
SamplesSPC_167
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984705
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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