A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34565



Internal ID12990602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:18915920..18940132hg38UCSC Ensembl
Innerchr11:18937467..18961679hg19UCSC Ensembl
Innerchr11:18894043..18918255hg18UCSC Ensembl
Innerchr11:18894043..18918255hg17UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg3824213
hg1924213
hg1824213
hg1724213
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv42e55
Supporting Variantsessv6986809, essv6979192
SamplesNA18505
Known GenesMRGPRX1
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)esv34565
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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