A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11949221



Internal ID4544516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:77880022..77890156hg38UCSC Ensembl
Innerchr5:77880022..77890156hg38UCSC Ensembl
Outerchr5:77879522..77890656hg38UCSC Ensembl
chr5:77175846..77185980hg19UCSC Ensembl
Innerchr5:77175846..77185980hg19UCSC Ensembl
Outerchr5:77175346..77186480hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg3810135
hg1910135
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605500
Supporting Variants
SamplesHG04039
Known GenesLOC101929154
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11949221
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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