A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3641590



Internal ID6681675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:3275083..3275856hg38UCSC Ensembl
Innerchr18:3275104..3275835hg38UCSC Ensembl
Outerchr18:3275062..3275877hg38UCSC Ensembl
chr18:3275081..3275854hg19UCSC Ensembl
Innerchr18:3275102..3275833hg19UCSC Ensembl
Outerchr18:3275060..3275875hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg38774
hg19774
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15779200, essv15779202, essv15779201, essv15779199
SamplesHG03571, HG02343, HG02852, HG03460
Known GenesMYL12B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3641590
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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