A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986368



Internal ID12974978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:187434387..187518698hg38UCSC Ensembl
Innerchr3:187152175..187236486hg19UCSC Ensembl
Innerchr3:188634869..188719180hg18UCSC Ensembl
Innerchr3:188634877..188719188hg17UCSC Ensembl
Cytoband3q27.3
Allele length
AssemblyAllele length
hg3884312
hg1984312
hg1884312
hg1784312
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751986
Supporting Variants
SamplesBEC_554
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986368
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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