A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752051



Internal ID12985603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:87704284..87751573hg38UCSC Ensembl
Innerchr4:88625436..88672725hg19UCSC Ensembl
Innerchr4:88844460..88891749hg18UCSC Ensembl
Innerchr4:88982615..89029904hg17UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg3847290
hg1947290
hg1847290
hg1747290
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6981926, essv6989544
SamplesBEC_501
Known Genes
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)esv2752051
Frequency
Sample Size771
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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