A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25799656



Internal ID19174599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:48923053..49033175hg38UCSC Ensembl
Innerchr2:49150192..49260314hg19UCSC Ensembl
Innerchr2:49003696..49113818hg18UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg38110123
hg19110123
hg18110123
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892082
Supporting Variants
Samples
Known GenesFSHR
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=53
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25799656
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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