A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751994



Internal ID12638860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:2200757..3178886hg38UCSC Ensembl
Innerchr3:2242441..3220570hg19UCSC Ensembl
Innerchr3:2217441..3195570hg18UCSC Ensembl
Innerchr3:2217441..3195570hg17UCSC Ensembl
Cytoband3p26.2
Allele length
AssemblyAllele length
hg38978130
hg19978130
hg18978130
hg17978130
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6984455, essv6984456, essv6984454, essv6984453
SamplesBEC_707
Known GenesCNTN4, CRBN, IL5RA, TRNT1
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)esv2751994
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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