A curated catalogue of human genomic structural variation




Variant Details

Variant: esv35023



Internal ID12991059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:104385032..105059466hg38UCSC Ensembl
Innerchr3:104103876..104778310hg19UCSC Ensembl
Innerchr3:105586566..106261000hg18UCSC Ensembl
Innerchr3:105586566..106261000hg17UCSC Ensembl
Cytoband3q13.11
Allele length
AssemblyAllele length
hg38674435
hg19674435
hg18674435
hg17674435
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6980171, essv6987729, essv6987730, essv6989153, essv6980172
SamplesNA18966
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)esv35023
Frequency
Sample Size771
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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