A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751976



Internal ID12985528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:116148463..116184463hg38UCSC Ensembl
Innerchr3:115867310..115903310hg19UCSC Ensembl
Innerchr3:117350000..117386000hg18UCSC Ensembl
Innerchr3:117350000..117386000hg17UCSC Ensembl
Cytoband3q13.31
Allele length
AssemblyAllele length
hg3836001
hg1936001
hg1836001
hg1736001
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6984579, essv6989441
SamplesBEC_720
Known GenesLSAMP
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2751976
Frequency
Sample Size771
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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