A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788889



Internal ID19159579
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:7080136..7562319hg38UCSC Ensembl
Innerchr18:7080135..7562317hg19UCSC Ensembl
Innerchr18:7070135..7552317hg18UCSC Ensembl
Cytoband18p11.23
Allele length
AssemblyAllele length
hg38482184
hg19482183
hg18482183
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 HumanHap 610
CommentsNumber of probes=131
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788889
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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