A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25782643



Internal ID18827998
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:61013009..61079085hg38UCSC Ensembl
Innerchr5:60308836..60374912hg19UCSC Ensembl
Innerchr5:60344593..60410669hg18UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg3866077
hg1966077
hg1866077
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3894196
Supporting Variants
Samples
Known GenesNDUFAF2
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=11
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25782643
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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