A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983000



Internal ID12627971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:188124933..188289344hg38UCSC Ensembl
Innerchr3:187842721..188007132hg19UCSC Ensembl
Innerchr3:189325415..189489826hg18UCSC Ensembl
Innerchr3:189325423..189489834hg17UCSC Ensembl
Cytoband3q27.3
Allele length
AssemblyAllele length
hg38164412
hg19164412
hg18164412
hg17164412
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751987
Supporting Variants
SamplesBEC_532
Known GenesFLJ42393, LPP, LPP-AS2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6983000
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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