A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25780950



Internal ID18818793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:44172432..44781215hg38UCSC Ensembl
Innerchr14:44641635..45250418hg19UCSC Ensembl
Innerchr14:43711385..44320168hg18UCSC Ensembl
Cytoband14q21.2
Allele length
AssemblyAllele length
hg38608784
hg19608784
hg18608784
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892524
Supporting Variants
Samples
Known GenesFSCB
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=131
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25780950
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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