A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751993



Internal ID12638859
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:2170634..2861196hg38UCSC Ensembl
Innerchr3:2212318..2902880hg19UCSC Ensembl
Innerchr3:2187318..2877880hg18UCSC Ensembl
Innerchr3:2187318..2877880hg17UCSC Ensembl
Cytoband3p26.2
Allele length
AssemblyAllele length
hg38690563
hg19690563
hg18690563
hg17690563
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6982176, essv6989289, essv6982175
SamplesBEC_40
Known GenesCNTN4
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2751993
Frequency
Sample Size771
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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