A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25798556



Internal ID19164422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:175553242..176177948hg38UCSC Ensembl
Innerchr3:175271030..175895736hg19UCSC Ensembl
Innerchr3:176753724..177378430hg18UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg38624707
hg19624707
hg18624707
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893821
Supporting Variants
Samples
Known GenesNAALADL2
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=113
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25798556
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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