A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25789186



Internal ID19174446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:40771481..40884141hg38UCSC Ensembl
Innerchr12:41165283..41277943hg19UCSC Ensembl
Innerchr12:39451550..39564210hg18UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38112661
hg19112661
hg18112661
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892194
Supporting Variants
Samples
Known GenesCNTN1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=40
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25789186
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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