A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25787728



Internal ID19171508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42870449..43035037hg38UCSC Ensembl
Innerchr19:43374601..43539189hg19UCSC Ensembl
Innerchr19:48066441..48231029hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38164589
hg19164589
hg18164589
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893210
Supporting Variants
Samples
Known GenesPSG1, PSG11, PSG6, PSG7
MethodSNP array
Analysis
PlatformIllumina HumanHap 550
CommentsNumber of probes=12
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25787728
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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