A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11959118



Internal ID4420241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:84113198..84113783hg38UCSC Ensembl
Innerchr5:84113206..84113776hg38UCSC Ensembl
Outerchr5:84113191..84113791hg38UCSC Ensembl
chr5:83409016..83409601hg19UCSC Ensembl
Innerchr5:83409024..83409594hg19UCSC Ensembl
Outerchr5:83409009..83409609hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg38586
hg19586
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605643
Supporting Variants
SamplesHG03934
Known GenesEDIL3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11959118
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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