A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3642264



Internal ID7029034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:38588495..38591747hg38UCSC Ensembl
Innerchr18:38588495..38591747hg38UCSC Ensembl
Outerchr18:38588426..38591925hg38UCSC Ensembl
chr18:36168459..36171711hg19UCSC Ensembl
Innerchr18:36168459..36171711hg19UCSC Ensembl
Outerchr18:36168390..36171889hg19UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg383253
hg193253
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15844595, essv15844594, essv15844593
SamplesHG02944, HG02334, HG02014
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3642264
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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