A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3641682



Internal ID7028454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:7109338..7113399hg38UCSC Ensembl
chr18:7109337..7113398hg19UCSC Ensembl
Cytoband18p11.23
Allele length
AssemblyAllele length
hg384062
hg194062
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15793285, essv15793284, essv15793292, essv15793286, essv15793294, essv15793293, essv15793297, essv15793295, essv15793289, essv15793296, essv15793288, essv15793298, essv15793291, essv15793283, essv15793287, essv15793290
SamplesHG00650, HG02952, NA19119, HG01968, NA19917, HG01841, HG01187, NA19184, NA18871, HG00684, NA18858, HG02317, HG02971, HG03060, HG02052, HG01886
Known GenesLAMA1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3641682
Frequency
Sample Size2504
Observed Gain16
Observed Loss0
Observed Complex0
Frequencyn/a


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