A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2422310



Internal ID8253093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:100478827..100560505hg38UCSC Ensembl
Innerchr4:101399984..101481662hg19UCSC Ensembl
Innerchr4:101619007..101700685hg18UCSC Ensembl
Innerchr4:101757162..101838840hg17UCSC Ensembl
Cytoband4q23
Allele length
AssemblyAllele length
hg3881679
hg1981679
hg1881679
hg1781679
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5161555
SamplesND01692
Known GenesEMCN
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)esv2422310
Frequency
Sample Size181
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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