A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3892082



Internal ID19186478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:48923053..49033175hg38UCSC Ensembl
Outerchr2:48923053..49033175hg38UCSC Ensembl
Innerchr2:49150192..49260314hg19UCSC Ensembl
Outerchr2:49150192..49260314hg19UCSC Ensembl
Innerchr2:49003696..49113818hg18UCSC Ensembl
Outerchr2:49003696..49113818hg18UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg38110123
hg19110123
hg18110123
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25799656
Samples
Known GenesFSHR
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3892082
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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