A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25786553



Internal ID19173508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:146249386..146349953hg38UCSC Ensembl
Innerchr3:145967173..146067740hg19UCSC Ensembl
Innerchr3:147449863..147550430hg18UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg38100568
hg19100568
hg18100568
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893781
Supporting Variants
Samples
Known GenesPLSCR4
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=18
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25786553
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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