A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11879340



Internal ID833401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:40836160..40840132hg38UCSC Ensembl
Innerchr5:40836182..40840110hg38UCSC Ensembl
Outerchr5:40836138..40840154hg38UCSC Ensembl
chr5:40836262..40840234hg19UCSC Ensembl
Innerchr5:40836284..40840212hg19UCSC Ensembl
Outerchr5:40836240..40840256hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg383973
hg193973
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3604828
Supporting Variants
SamplesHG00421
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11879340
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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