A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788163



Internal ID19174571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:7081725..7564300hg38UCSC Ensembl
Innerchr18:7081724..7564298hg19UCSC Ensembl
Innerchr18:7071724..7554298hg18UCSC Ensembl
Cytoband18p11.23
Allele length
AssemblyAllele length
hg38482576
hg19482575
hg18482575
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=152
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788163
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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