A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6343366



Internal ID8919463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:40836218..40840170hg38UCSC Ensembl
Outerchr5:40836181..40840220hg38UCSC Ensembl
Innerchr5:40836320..40840272hg19UCSC Ensembl
Outerchr5:40836283..40840322hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg384040
hg194040
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2660291
Supporting Variants
SamplesHG00421
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6343366
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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