A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25787943



Internal ID18815583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:73308984..73364098hg38UCSC Ensembl
Innerchr7:72722981..72778107hg19UCSC Ensembl
Innerchr7:72360917..72416043hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3855115
hg1955127
hg1855127
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891145
Supporting Variants
Samples
Known GenesFKBP6, TRIM50
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=23
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25787943
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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