A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750985



Internal ID12984537
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:134440896..134849175hg38UCSC Ensembl
Innerchr11:134310790..134719069hg19UCSC Ensembl
Innerchr11:133816000..134224279hg18UCSC Ensembl
Innerchr11:133816000..134224279hg17UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg38408280
hg19408280
hg18408280
hg17408280
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv55e55
Supporting Variantsessv6982114, essv6986089, essv6988493, essv6982113
SamplesBEC_521
Known GenesLOC283177
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)esv2750985
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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