A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25784957



Internal ID18823400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:85514618..85885975hg38UCSC Ensembl
Innerchr12:85908396..86279753hg19UCSC Ensembl
Innerchr12:84432527..84803884hg18UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg38371358
hg19371358
hg18371358
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892242
Supporting Variants
Samples
Known GenesNTS, RASSF9
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=60
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25784957
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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