A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3642483



Internal ID7029253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:48995540..48996798hg38UCSC Ensembl
Innerchr18:48995547..48996791hg38UCSC Ensembl
Outerchr18:48995533..48996805hg38UCSC Ensembl
chr18:46521910..46523168hg19UCSC Ensembl
Innerchr18:46521917..46523161hg19UCSC Ensembl
Outerchr18:46521903..46523175hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg381259
hg191259
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15862334, essv15862335, essv15862336, essv15862338, essv15862337
SamplesNA20771, HG00311, HG00176, HG00366, HG00345
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3642483
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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