A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2422213



Internal ID1219979
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:53179891..53258767hg38UCSC Ensembl
Innerchr1:53645563..53724439hg19UCSC Ensembl
Innerchr1:53418151..53497027hg18UCSC Ensembl
Innerchr1:53357584..53436460hg17UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg3878877
hg1978877
hg1878877
hg1778877
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5161539
SamplesND01562
Known GenesC1orf123, CPT2, LOC100507564, LRP8, MAGOH
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)esv2422213
Frequency
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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