A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34806



Internal ID12990842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:160874284..161011307hg38UCSC Ensembl
Innerchr4:161795436..161932459hg19UCSC Ensembl
Innerchr4:162014886..162151909hg18UCSC Ensembl
Innerchr4:162153041..162290064hg17UCSC Ensembl
Cytoband4q32.1
Allele length
AssemblyAllele length
hg38137024
hg19137024
hg18137024
hg17137024
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv191e55
Supporting Variantsessv6986953, essv6979815, essv6979816, essv6990411
SamplesNA18633
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)esv34806
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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