A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25790463



Internal ID19160255
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:5670796..5811011hg38UCSC Ensembl
Innerchr7:5710427..5850642hg19UCSC Ensembl
Innerchr7:5676953..5817168hg18UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg38140216
hg19140216
hg18140216
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891028
Supporting Variants
Samples
Known GenesMIR6874, RNF216, RNF216-IT1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=34
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25790463
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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