A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25782249



Internal ID18816351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:143674158..143949533hg38UCSC Ensembl
Innerchr1:149168798..149444104hg19UCSC Ensembl
Innerchr1:147435422..147710728hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38275376
hg19275307
hg18275307
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3894156
Supporting Variants
Samples
Known GenesFCGR1C, LOC388692
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=14
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25782249
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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