A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11765183



Internal ID1766999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:74519..76683hg38UCSC Ensembl
Innerchr5:74519..76683hg38UCSC Ensembl
Outerchr5:74301..76951hg38UCSC Ensembl
chr5:74634..76798hg19UCSC Ensembl
Innerchr5:74634..76798hg19UCSC Ensembl
Outerchr5:74416..77066hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg382165
hg192165
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3603729
Supporting Variants
SamplesHG01990
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11765183
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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