A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11844303



Internal ID3217658
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:24858380..24866706hg38UCSC Ensembl
Innerchr5:24858398..24866688hg38UCSC Ensembl
Outerchr5:24858362..24866724hg38UCSC Ensembl
chr5:24858489..24866815hg19UCSC Ensembl
Innerchr5:24858507..24866797hg19UCSC Ensembl
Outerchr5:24858471..24866833hg19UCSC Ensembl
Cytoband5p14.1
Allele length
AssemblyAllele length
hg388327
hg198327
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3604405
Supporting Variants
SamplesHG02819
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11844303
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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