A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2422511



Internal ID8253294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:5581139..5645560hg38UCSC Ensembl
Innerchr4:5582866..5647287hg19UCSC Ensembl
Innerchr4:5633767..5698188hg18UCSC Ensembl
Innerchr4:5700938..5765359hg17UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg3864422
hg1964422
hg1864422
hg1764422
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5161304
SamplesND01708
Known GenesEVC2
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)esv2422511
Frequency
Sample Size181
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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