A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6980263



Internal ID12978107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:143186460..143241460hg38UCSC Ensembl
Innerchr3:142905302..142960302hg19UCSC Ensembl
Innerchr3:144387992..144442992hg18UCSC Ensembl
Innerchr3:144388000..144443000hg17UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg3855001
hg1955001
hg1855001
hg1755001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34280
Supporting Variants
SamplesNA06993
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6980263
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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