A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11858919



Internal ID4886717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:32966097..32970867hg38UCSC Ensembl
Innerchr5:32966132..32970833hg38UCSC Ensembl
Outerchr5:32966063..32970902hg38UCSC Ensembl
chr5:32966203..32970973hg19UCSC Ensembl
Innerchr5:32966238..32970939hg19UCSC Ensembl
Outerchr5:32966169..32971008hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg384771
hg194771
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3604628
Supporting Variants
SamplesNA12400
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11858919
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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