A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3641841



Internal ID7028612
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:12624248..12628769hg38UCSC Ensembl
Innerchr18:12624269..12628749hg38UCSC Ensembl
Outerchr18:12624228..12628790hg38UCSC Ensembl
chr18:12624247..12628768hg19UCSC Ensembl
Innerchr18:12624268..12628748hg19UCSC Ensembl
Outerchr18:12624227..12628789hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg384522
hg194522
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15811744
SamplesHG03744
Known GenesSPIRE1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3641841
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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