A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6980425



Internal ID12982416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:42318614..42326560hg38UCSC Ensembl
Innerchr3:42360106..42368052hg19UCSC Ensembl
Innerchr3:42335110..42343056hg18UCSC Ensembl
Innerchr3:42335110..42343056hg17UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg387947
hg197947
hg187947
hg177947
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34472
Supporting Variants
SamplesNA19171
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6980425
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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