A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788953



Internal ID18833745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:143544453..143861355hg38UCSC Ensembl
Innerchr1:149039120..149355917hg19UCSC Ensembl
Innerchr1:147305744..147622541hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38316903
hg19316798
hg18316798
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3894189
Supporting Variants
Samples
Known GenesLOC101929780, LOC388692, NBPF23
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=16
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788953
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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