A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6980312



Internal ID12978176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:129332408..129383408hg38UCSC Ensembl
Innerchr5:128668101..128719101hg19UCSC Ensembl
Innerchr5:128696000..128747000hg18UCSC Ensembl
Innerchr5:128696000..128747000hg17UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg3851001
hg1951001
hg1851001
hg1751001
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34881
Supporting Variants
SamplesNA07029
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6980312
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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