A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751986



Internal ID12985538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:187418881..187524510hg38UCSC Ensembl
Innerchr3:187136669..187242298hg19UCSC Ensembl
Innerchr3:188619363..188724992hg18UCSC Ensembl
Innerchr3:188619371..188725000hg17UCSC Ensembl
Cytoband3q27.3
Allele length
AssemblyAllele length
hg38105630
hg19105630
hg18105630
hg17105630
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6986368, essv6983202, essv6983200, essv6983201
SamplesBEC_554
Known Genes
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)esv2751986
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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