A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11980767



Internal ID4655764
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:92301538..92305048hg38UCSC Ensembl
Innerchr5:92301688..92304898hg38UCSC Ensembl
Outerchr5:92301388..92305198hg38UCSC Ensembl
chr5:91597355..91600865hg19UCSC Ensembl
Innerchr5:91597505..91600715hg19UCSC Ensembl
Outerchr5:91597205..91601015hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg383511
hg193511
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605791
Supporting Variants
SamplesHG04185
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11980767
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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