A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25784818



Internal ID18835308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:63552929..63800181hg38UCSC Ensembl
Innerchr14:64019647..64266899hg19UCSC Ensembl
Innerchr14:63089400..63336652hg18UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg38247253
hg19247253
hg18247253
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892555
Supporting Variants
Samples
Known GenesSGPP1, WDR89
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=21
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25784818
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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