A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5984313



Internal ID9517793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:43687687..43689130hg38UCSC Ensembl
Outerchr18:43687650..43689180hg38UCSC Ensembl
Innerchr18:41267652..41269095hg19UCSC Ensembl
Outerchr18:41267615..41269145hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg381531
hg191531
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2665520
Supporting Variants
SamplesNA19004
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5984313
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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