A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978816



Internal ID12979173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:48521027..48636618hg38UCSC Ensembl
Innerchr11:48542579..48658170hg19UCSC Ensembl
Innerchr11:48499155..48614746hg18UCSC Ensembl
Innerchr11:48499155..48614746hg17UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg38115592
hg19115592
hg18115592
hg17115592
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34253
Supporting Variants
SamplesNA12716
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978816
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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