A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751988



Internal ID12985540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:195706672..195924478hg38UCSC Ensembl
Innerchr3:195433543..195651349hg19UCSC Ensembl
Innerchr3:196918723..197135746hg18UCSC Ensembl
Innerchr3:196922636..197139659hg17UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38217807
hg19217807
hg18217024
hg17217024
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6986260, essv6982791, essv6988584
SamplesBEC_593
Known GenesMIR6829, MUC20, MUC4, TNK2
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)esv2751988
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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