A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25785315



Internal ID18824943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:80093180..80136660hg38UCSC Ensembl
Innerchr12:80486960..80530440hg19UCSC Ensembl
Innerchr12:79011091..79054571hg18UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3843481
hg1943481
hg1843481
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892230
Supporting Variants
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=7
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25785315
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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