A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5395244



Internal ID8719237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:7111034..7658681hg38UCSC Ensembl
Innerchr18:7111033..7658679hg19UCSC Ensembl
Innerchr18:7101033..7648679hg18UCSC Ensembl
Cytoband18p11.23
Allele length
AssemblyAllele length
hg38547648
hg19547647
hg18547647
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2656232
Supporting Variants
Samples2378 [56]
Known GenesLAMA1, LRRC30, PTPRM
MethodMerging
AnalysisCalls merged from CNV Partition and PennCV algorithms
PlatformMerging
Comments
ReferenceChia_et_al_2012
Pubmed ID23635498
Accession Number(s)essv5395244
Frequency
Sample Size64
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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