A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25779509



Internal ID19168485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:48282000..48310691hg38UCSC Ensembl
Innerchr12:48675783..48704474hg19UCSC Ensembl
Innerchr12:46962050..46990741hg18UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg3828692
hg1928692
hg1828692
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892199
Supporting Variants
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=9
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25779509
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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