A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3643167



Internal ID7029936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:76230297..76262899hg38UCSC Ensembl
Innerchr18:76230347..76262849hg38UCSC Ensembl
Outerchr18:76230247..76262949hg38UCSC Ensembl
chr18:73942252..73974854hg19UCSC Ensembl
Innerchr18:73942302..73974804hg19UCSC Ensembl
Outerchr18:73942202..73974904hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg3832603
hg1932603
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15937346, essv15937348, essv15937347
SamplesNA06984, HG03061, NA19001
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3643167
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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