A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751998



Internal ID12638864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:2718513..2852012hg38UCSC Ensembl
Innerchr3:2760197..2893696hg19UCSC Ensembl
Innerchr3:2735197..2868696hg18UCSC Ensembl
Innerchr3:2735197..2868696hg17UCSC Ensembl
Cytoband3p26.2
Allele length
AssemblyAllele length
hg38133500
hg19133500
hg18133500
hg17133500
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6981020, essv6981019, essv6981018, essv6981017
SamplesBEC_337
Known GenesCNTN4
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)esv2751998
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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