A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25791844



Internal ID18819770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:3982600..4405472hg38UCSC Ensembl
Innerchr18:3982600..4405472hg19UCSC Ensembl
Innerchr18:3972600..4395472hg18UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg38422873
hg19422873
hg18422873
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893065
Supporting Variants
Samples
Known GenesDLGAP1, DLGAP1-AS4, DLGAP1-AS5
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=140
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25791844
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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