A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788282



Internal ID19168139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:7082527..7564300hg38UCSC Ensembl
Innerchr18:7082526..7564298hg19UCSC Ensembl
Innerchr18:7072526..7554298hg18UCSC Ensembl
Cytoband18p11.23
Allele length
AssemblyAllele length
hg38481774
hg19481773
hg18481773
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893068
Supporting Variants
Samples
Known GenesLAMA1, LRRC30
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=151
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788282
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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