A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15844595



Internal ID3303141
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642264
Supporting Variants
SamplesHG02944
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15844595
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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