A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25793053



Internal ID18826083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:2807372..3107386hg38UCSC Ensembl
Innerchr7:2847006..3147020hg19UCSC Ensembl
Innerchr7:2813532..3113546hg18UCSC Ensembl
Cytoband7p22.2
Allele length
AssemblyAllele length
hg38300015
hg19300015
hg18300015
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891011
Supporting Variants
Samples
Known GenesCARD11, GNA12
MethodSNP array
Analysis
PlatformIllumina HumanHap 550
CommentsNumber of probes=121
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25793053
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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