A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752035



Internal ID12985587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:161000243..161091243hg38UCSC Ensembl
Innerchr4:161921395..162012395hg19UCSC Ensembl
Innerchr4:162140845..162231845hg18UCSC Ensembl
Innerchr4:162279000..162370000hg17UCSC Ensembl
Cytoband4q32.2
Allele length
AssemblyAllele length
hg3891001
hg1991001
hg1891001
hg1791001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6988705, essv6986493
SamplesBEC_618
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)esv2752035
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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