A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34866



Internal ID12644216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:172656276..172752581hg38UCSC Ensembl
Innerchr5:172083279..172179584hg19UCSC Ensembl
Innerchr5:172015884..172112189hg18UCSC Ensembl
Innerchr5:172015884..172112189hg17UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg3896306
hg1996306
hg1896306
hg1796306
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv208e55
Supporting Variantsessv6986614, essv6978432
SamplesNA19098
Known GenesNEURL1B
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)esv34866
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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