A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984454



Internal ID12630318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:2204373..3163748hg38UCSC Ensembl
Innerchr3:2246057..3205432hg19UCSC Ensembl
Innerchr3:2221057..3180432hg18UCSC Ensembl
Innerchr3:2221057..3180432hg17UCSC Ensembl
Cytoband3p26.2
Allele length
AssemblyAllele length
hg38959376
hg19959376
hg18959376
hg17959376
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751994
Supporting Variants
SamplesBEC_707
Known GenesCNTN4, CRBN, IL5RA, TRNT1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984454
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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