A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751990



Internal ID12638856
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:1992731..2380637hg38UCSC Ensembl
Innerchr3:2034415..2422321hg19UCSC Ensembl
Innerchr3:2009415..2397321hg18UCSC Ensembl
Innerchr3:2009415..2397321hg17UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg38387907
hg19387907
hg18387907
hg17387907
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6984816, essv6984818, essv6987693, essv6984817, essv6988853
SamplesSPC_181
Known GenesCNTN4, CNTN4-AS2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2751990
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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